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C. Dent (1947)
The amino-aciduria in Fanconi syndrome. A study making extensive use of techniques based on paper partition chromatography.The Biochemical journal, 41 2
W. Knox, D. Hsia (1957)
Pathogenetic problems in phenylketonuria.The American journal of medicine, 22 5
H. Bickel, J. Gerrard, E. Hickmans (1954)
The Influence of Phenylalanine Intake on the Chemistry and Behaviour of a Phenylketonuria ChildActa Pædiatrica, 43
R. Eckhardt, C. Davidson (1949)
Urinary excretion of amino acids by a normal adult receiving diets of varied protein content.The Journal of biological chemistry, 177 2
D. A. J. Williamson (1952)
CystinosisArch. Dis. Childhood, 27
W. Henderson (1958)
A Case of Hartnup DiseaseArchives of Disease in Childhood, 33
B. Steele, H. Sauberlich (1947)
Amino acids in the urine of human subjects fed eggs or soy beans.The Journal of nutrition, 33 2
T. H. J. Huisman (1957)
L'Elimination des acides amines chez des enfants normaux d'ages differentsArch. franc. pédiat., 14
C. Rivier (1956)
Observations sur l'aminoacidurie du nourrisson bienportantHelvet. paediat. acta, 11
W. Skinner , C. Dortis (1957)
Amino-Aciduria in Childhood, Cystinuria or CystinosisJ. South Carolina M.A., 53
D. Hsia (1957)
Detection of the Heterozygous CarrierJ. Ment. Def., 1
C. Lowe (1958)
Congenital abnormalities of amino acid transport in renal tubules.Pediatrics, 21 6
P. D. Doolan , H. A. Harper, M. E. Hutchin (1955)
Renal Clearance of 18 Individual Amino Acids in Human SubjectsJ. Clin. Invest., 34
M. Milne, S. Stanbury, A. Thomson (1952)
Observations on the Fanconi syndrome and renal hyperchloraemic acidosis in the adult.The Quarterly journal of medicine, 21 81
H. Christensen, E. Lynch, J. Powers (1946)
The conjugated, non-protein, amino acids of plasma; peptidemia and hyperpeptiduria as a result of the intravenous administration of partially hydrolyzed casein (amigen).The Journal of biological chemistry, 166 2
S. Snyderman (1958)
Metabolism of amino acids; a review.Pediatrics, 21 1
H. Harris (1953)
Family Studies on the Urinary Excretion of ?-Aminoisobutyric AcidsAnn. Eugen., 18
L. Uzman, D. Denny-Brown (1948)
AMINO-ACIDURIA IN HEPATO-LENTICULAR DEGENERATION (WILSON'S DISEASE)The American Journal of the Medical Sciences, 215
M. Armstrong, E. Binkley (1956)
Studies on Phenylketonuria. V. Observations on a Newborn Infant with Phenylketonuria.∗Proceedings of the Society for Experimental Biology and Medicine, 93
S. Ames, H. Risley (1948)
Aminoaciduria in Progressive Muscular Dystrophy.∗Proceedings of the Society for Experimental Biology and Medicine, 68
L. L. Uzman (1952)
Amino-Aciduria of Wilson's Disease (Hepatolenticular Degeneration)Am. J. M. Sc., 223
P. Dern (1957)
Amino-aciduria with cystinosis: case report with determination of urinary amino acids and ocular cystine.Annals of internal medicine, 46 1
C. H. DeVerdier (1950)
Paper Chromatographic Analysis of Amino Acid Excretion in Wilson's DiseaseActa med. scandinav., 138
D. Slyke, D. Macfadyen, P. Hamilton (1943)
The gasometric determination of amino acids in mine by the ninhydrin-carbon dioxide method.Journal of Biological Chemistry, 150
H. Lewis, B. Brown, F. White (1936)
The metabolism of sulfur. 23. The influence of the ingestion of cystine, cysteine, and methionine on the excretion of cystine in cystinuria.Journal of Biological Chemistry, 114
Armstrong, Shaw Kn, Robinson Ks (1955)
Studies on phenylketonuria. II. The excretion of o-hydroxyphenylacetic acid in phenylketonuria.The Journal of biological chemistry, 213 2
H. Bickel (1952)
Cystine Storage Disease with Aminoaciduria and Dwarfism (Lignac-Fanconi Disease)Acta paediat., 42
H. Bickel (1952)
Paper Chromatographic Investigations on the Urine of Patients R. T. and R. R.Arch. Dis. Childhood, 27
E. L. Pratt (1954)
Urinary Amino Acid Excretion by Premature InfantsA.M.A. Am. J. Dis. Child., 88
A. vries, S. Kochwa, J. Lazebnik, M. Frank, M. Djaldetti (1957)
Glycinuria, a hereditary disorder associated with nephrolithiasis.The American journal of medicine, 23 3
S. M. Gartler , L. I. Firschein (1956)
Some Genetical and Anthropological Consideration of Urinary ?-Aminoisobutyric Acid ExcretionActa genet. basel., 6
A. Bearn, H. Kunkel (1954)
Abnormalities of copper metabolism in Wilson's disease and their relationship to the aminoaciduria.The Journal of clinical investigation, 33 3
D. Cusworth, C. Dent, F. Flynn (1955)
The Amino-aciduria in GalactosaemiaArchives of Disease in Childhood, 30
W. Lathem, K. Baker, S. Bradley (1955)
Urinary amino acid excretion in renal disease, with observations on the Fanconi syndrome.The American journal of medicine, 18 2
L. Woolf, H. Giles (1956)
Urinary Excretion of Amino‐Acids and Sugar in the Nephrotic Syndrome A Chromatographic StudyActa Pædiatrica, 45
R. Block, E. Durrum, G. Zweig (1955)
Paper Chromatography and Paper ElectrophoresisSoil Science, 79
H. Harris (1952)
FAMILY STUDIES ON THE URINARY EXCRETION OF ß-AMINOISOBUTYRIC ACIDAnnals of Human Genetics, 17
A. Smith, L. Strang (1958)
An Inborn Error of Metabolism with the Urinary Excretion of α-Hydroxy-Butyric Acid and Phenylpyruvic AcidArchives of Disease in Childhood, 33
H. Bickel, W. Smallwood, J. Smellie, E. Hickmans (1952)
CLINICAL DESCRIPTION, FACTUAL ANALYSIS, PROGNOSIS AND TREATMENT OF LIGNAC‐FANCONI DISEASEActa Pædiatrica, 42
S. Levine, H. Gordon, E. Marples (1941)
A DEFECT IN THE METABOLISM OF TYROSINE AND PHENYLALANINE IN PREMATURE INFANTS. II. SPONTANEOUS OCCURRENCE AND ERADICATION BY VITAMIN C.The Journal of clinical investigation, 20 2
W. Stein, A. Bearn, S. Moore (1954)
The amino acid content of the blood and urine in Wilson's disease.The Journal of clinical investigation, 33 3
W. Eberlein (1953)
Aminoaciduria in childhood: cystinuria and cystinosis.The American journal of the medical sciences, 225 6
H. A. Harper , M. F. Hutchin (1952)
Concentrations of 19 Amino Acids in Plasma and Urine of Fasting Normal MalesProc. Soc. Exper. Biol. & Med., 80
A. Rothstein, H. Berke (1949)
Amino aciduria in uranium poisoning; the use of the amino-acid nitrogen to creatinine ratio in spot samples of urine.The Journal of pharmacology and experimental therapeutics, 96 2
P. Doolan, H. Harper, M. Hutchin, W. Shreeve (1955)
Renal clearance of eighteen individual amino acids in human subjects.The Journal of clinical investigation, 34 8
R. G. Westall , J. Dancis (1957)
Maple Syrup Urine DiseaseA.M.A.J. Dis. Child., 94
J. Jonxis, T. Huisman (1954)
Amino aciduria and ascorbic acid deficiency.Pediatrics, 14 3
L. I. Woolf (1956)
Urinary Excretion of Amino-Acids and Sugar in the Nephrotic SyndromeActa paediat., 45
W. Stein (1951)
Excretion of Amino Acids in CystinuriaProceedings of the Society for Experimental Biology and Medicine, 78
C. E. Dent (1954)
Aminoacid MetabolismBrit. M. Bull., 10
H. Ghadimi, M. Stern, H. Shwachman (1960)
A study of the free amino acids in sweat from patients with cystic fibrosis.A.M.A. journal of diseases of children, 99
H. Krebs (1935)
Metabolism of amino-acids: Deamination of amino-acids.The Biochemical journal, 29 7
H. E. Sutton (1958)
Abnormal Amino Acid Metabolism in a Case Suggesting AutismA.M.A. Am. J. Dis. Child., 96
IN Galactosaemia, AN Obscure, D. Thursby-Pelham (1954)
Hyperamino-aciduria in Lignac-Fanconi Disease, in Galactosaemia and in an Obscure SyndromeArchives of Disease in Childhood, 29
S. van Creveld (1949)
Transitory Renal Osteoporosis with Aminoaciduria and Development of Hypersensitivity to Vitamin DAnn. paediat., 173
T. Chalmers, F. Iber, L. Uzman (1957)
Hepatolenticular degeneration (Wilson's disease) as a form of idiopathic cirrhosis.The New England journal of medicine, 256 6
M. D. Armstrong (1954)
On the Excretion of Indole Derivatives in Phenylketonuria (Letter to Editor)Arch. Biochem., 52
E. Freudenberg (1949)
Cystinosis: Cystine Disease (Lignac's Disease) in ChildrenAdvances Pediat., 4
S. Moore, W. Stein (1948)
Photometric ninhydrin method for use in the chromatography of amino acids.The Journal of biological chemistry, 176 1
H. Harris, E. Robson (1955)
Variation in homozygous cystinuria.Acta genetica et statistica medica, 5 4
S. Gartler, I. Firschein, T. Gidaspow (1956)
Some genetical and anthropological considerations of urinary beta-aminoisobutyric acid excretion.Acta genetica et statistica medica, 6 3
C. Voegtlin, H. Hodge (1949)
Pharmacology And Toxicology Of Uranium Compounds
L. L. Uzman (1953)
On the Relationship of Urinary Copper Excretion to the Amino Aciduria in Wilson's DiseaseAm. J. M. Sc., 226
J. Jonxis, T. Huisman (1957)
Excretion of amino acids in free and bound form during intravenous administration of protein hydrolysate.Metabolism: clinical and experimental, 6 2
Prof. Toni (1933)
E: 6. Remarks on the Relations between Renal Rickets (Renal Dwarfism) and Renal Diabetes.Acta Pædiatrica, 16
H. Thelander, R. Imagawa (1956)
Amino aciduria, congenital defects, and mental retardation; a preliminary report.The Journal of pediatrics, 49 2
T. S. Ma (1942)
Micro-Kjedahl Determination of Nitrogen, a New Indicator and an Improved Rapid MethodJ. Indust. & Engin. Chem. (Analyt. Ed.), 14
H. L.: Frankl Yeh , M. S. Dunn, P. Parker, B. Hughes (1947)
Urinary Excretion of Amino Acids by a Cystinuric SubjectAm. J. M. Sc., 214
C. Lowe, E. Bruck (1958)
Primary chronic metabolic acidosis with organic aciduria.Bibliotheca paediatrica, 66
C. Biagini (1953)
Quantitative Aspects of the Indirect Action of X-Radiation at Various Concentrations on E. coliNature, 172
S. Levine, E. Marples, H. Gordon (1941)
A DEFECT IN THE METABOLISM OF TYROSINE AND PHENYLALANINE IN PREMATURE INFANTS. I. IDENTIFICATION AND ASSAY OF INTERMEDIARY PRODUCTS.The Journal of clinical investigation, 20 2
B. H. Brown (1937)
Cystine in Normal and Cystinuric Human BloodProc. Soc. Exper. Biol. & Med., 36
G. Nardi (1954)
Essential and nonessential amino acids in the urine of severely burned patients.The Journal of clinical investigation, 33 6
R. Westall (1955)
The amino acids and other ampholytes of urine. 3. Unidentified substances excreted in normal human urine.The Biochemical journal, 60 2
Harry Harris, U. Mittwoch, Elizabeth Robson, F. Warren (1955)
THE PATTERN OF AMINO‐ACID EXCRETION IN CYSTINURIAAnnals of Human Genetics, 19
C. E. Dent (1957)
Clinical Applications of Aminoacid ChromatographyScandinav. J. Clin. & Lab. Invest., 10
M. S. Dunn , N. M. Camien, S. Shankman (1947)
Urinary Excretion of 12 Amino Acids by Normal Male and Female Subjects Measured MicrobiologicallyArch. Biochem., 13
C. Dent, H. Harris (1956)
Hereditary forms of rickets and osteomalacia.The Journal of bone and joint surgery. British volume, 38-B 1
R. D. Eckhardt , A. M. Cooper, W. W. Faloon (1948)
Urinary Excretion of Amino Acids in ManTr. New York Acad. Sc., 10
I. B. Cecil (1929)
A Simple Test for PregnancyBrit. M.J., 2
D. S. Russell (1936)
Storage of Cystine in Reticulo-Endothelial System and Its Association with Chronic Nephritis and Renal RicketsLancet, 2
C. Lowe, M. Terrey, E. Maclachlan (1952)
Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.A.M.A. American journal of diseases of children, 83 2
G. Stearns (1956)
Creatin and Creatinine Metabolism in Infancy: Infant Metabolism
A. Bearn (1957)
Wilson's disease; an inborn error of metabolism with multiple manifestations.The American journal of medicine, 22 5
Jonxis Jh (1955)
Amino-aciduria and rickets.Helvetica paediatrica acta, 10 1-2
I. Smith (1958)
Chromatographic Techniques
H. Bickel , J. Gerrard (1954)
The Influence of Phenylalanine Intake on the Chemistry and Behaviour of a Phenylketonuric ChildActa paediat., 43
D. Evered (1956)
The excretion of amino acids by the human; a quantitative study with ion-exchange chromatography.The Biochemical journal, 62 3
E. L. Holt (1959)
Amino Acid and Protein Metabolism
H. Harris, F. Warren (1953)
Quantitative studies on the urinary cystine in patients with cystine stone formation and in their relatives.Annals of eugenics, 18 2
H. Prakken (1951)
[A case of congenital cystinuria].Nederlands tijdschrift voor geneeskunde, 97 8
C. E. Dent (1954)
Colloque sur les acides amines
W. Parker, A. Prader, G. Fanconi (1955)
Further observations on cystine storage disease.Pediatrics, 16 2
H. Bickel (1953)
Cystine Storage Disease with Aminoaciduria and Dwarfism (Lignac‐Fanconi Disease)Acta Pædiatrica, 42
L. I. Woolf (1951)
Paper ChromatographyGreat Ormond St. J. No., 1
G. de Toni (1956)
Renal Rickets with Phospho-Gluco-Amino Renal Diabetes (de Toni-Debr�-Fanconi Syndrome)Ann. paediat., 187
G. de Toni (1933)
Remarks on the Relations Between Renal Rickets (Renal Dwarfism) and Renal DiabetesActa paediat., 16
D. Baron, C. Dent, H. Harris, E. Hart, J. Jepson (1956)
Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features.Lancet, 271 6940
A. Hottinger (1941)
�ber Cystin-DiatheseAnn. paediat., 156
B. Childs (1952)
Urinary Excretion of Free Alpha-Amino Acid Nitrogen by Normal Infants and ChildrenProceedings of the Society for Experimental Biology and Medicine, 81
L. Uzman, B. Hood (1952)
THE FAMILIAL NATURE OF THE AMINO‐ACIDURIA OF WILSON'S DISEASE (HEPATOLENTICULAR DEGENERATION)The American Journal of the Medical Sciences, 223
H. Crumpler, C. Dent, H. Harris, R. Westall (1951)
β-Aminoisobutyric Acid (α-Methyl-β-Alanine): A New Amino-Acid Obtained from Human UrineNature, 167
M. W. Cheung , D. I Fowler, P. M. Norton, S. E. Synderman (1955)
Observations on Amino Acid Metabolism in KwashiorkorJ. Trop. Pediat., 1
Robson Eb, Rose Ga (1957)
The effect of intravenous lysine on the renal clearances of cystine, arginine and ornithine in normal subjects, in patients with cystinuria and Fanconi syndrome and in their relatives.Clinical Science, 16
S. Moore, W. Stein (1954)
A modified ninhydrin reagent for the photometric determination of amino acids and related compounds.The Journal of biological chemistry, 211 2
P. J. Nestel (1957)
Investigation of Aminoaciduria in Erythro-Blastosis Foetalis and Its Possible Relationship to KernicterusM.J. Australia, 1
H. Woodson, S. Hier (1948)
Urinary excretion of amino acids by human subjects on normal diets.The Journal of biological chemistry, 172 2
T. Ma, G. Zuazaga (1942)
Micro-Kjeldahl Determination of Nitrogen.A New Indicator and An Improved Rapid MethodIndustrial & Engineering Chemistry Analytical Edition, 14
T. Huisman (1954)
The concentration of different amino acids in the blood plasma in children suffering from rickets and scurvy.Pediatrics, 14 3
E. Bürki (1941)
�ber Augenver�nderungen bei der CystinkrankheitAnn. paediat., 156
J. Jonxis, T. Huisman (1953)
Amino-aciduria in rachitic children.Lancet, 265 6783
L. Woolf, A. Norman (1957)
The urinary excretion of amino acids and sugars in early infancy.The Journal of pediatrics, 50 3
H Harris (1957)
Renal AminoaciduriaBrit. M. Bull., 13
H. Schönenberg (1954)
Papierchromatographische Untersuchungen bei der Pfaundler-Hurlerschen KrankheitMonatsschr. Kinderh., 102
H. Worthen, R. Good (1958)
The de Toni-Fanconi syndrome with cystinosis; clinical and metabolic study of two cases in a family and a critical review on the nature of the syndrome.A.M.A. journal of diseases of children, 95 6
W. Shreeve, M. Hutchin, H. Harper, C. Miller, P. Doolan (1955)
Excretion of Amino Acids in Nephrosis.∗Proceedings of the Society for Experimental Biology and Medicine, 88
H. Maschas , M. Lamotte, S. Lamotte-Barillon (1948)
Un Cas de cystinose revel�e par une lithiase urinaireBull. et mem. Soc. méd hôp., 64
H. Lauson (1951)
Sources of error in plasma creatinine determination.Journal of applied physiology, 4 3
E. Wallraff, E. Brodie, A. Borden (1950)
Urinary excretion of amino acids in pregnancy.The Journal of clinical investigation, 29 11
G. Jervis, R. Block, D. Bolling, Edna Kanze (1940)
CHEMICAL AND METABOLIC STUDIES ON PHENYLALANINEJournal of Biological Chemistry, 134
R. Clay, E. Darmady, M. Hawkins (1953)
The nature of the renal lesion in the Fanconi syndrome.The Journal of pathology and bacteriology, 65 2
S. Moore, W. Stein (1951)
Chromatography of amino acids on sulfonated polystyrene resins.The Journal of biological chemistry, 192 2
F. Sereni, H. Mcnamara, M. Shibuya, N. Kretchmer, H. Barnett (1955)
Concentration in plasma and rate of urinary excretion of amino acids in premature infants.Pediatrics, 15 5
C. Dent, J. Heathcote, G. Joron (1954)
The pathogenesis of cystinuria. I. Chromatographic and microbiological studies of the metabolism of sulphur-containing amino-acids.The Journal of clinical investigation, 33 9
K. Altman, G. Miller (1953)
A Disturbance of Tryptophan Metabolism in Congenital Hypoplastic AnæmiaNature, 172
G. Mudge (1958)
Clinical patterns of tubular dysfunction.The American journal of medicine, 24 5
R. Myerson, B. Pastor (1954)
THE FANCONI SYNDROME AND ITS CLINICAL VARIANTS*The American Journal of the Medical Sciences, 228
Dent Ce (1952)
Chromatography in the study of amino-acid metabolism., 2
V. Gilsanz, J. Segovia, H. Mendoza (1955)
Contribution to study of Wilson's disease.A.M.A. archives of internal medicine, 95 5
G. M. Komrower (1953)
L'Amino-Acidurie dans la galactos�mieArch. franc pédiat., 10
D. Mccune, H. Mason, H. Clarke (1943)
INTRACTABLE HYPOPHOSPHATEMIC RICKETS WITH RENAL GLYCOSURIA AND ACIDOSIS (THE FANCONI SYNDROME): REPORT OF A CASE IN WHICH INCREASED URINARY ORGANIC ACIDS WERE DETECTED AND IDENTIFIED, WITH A REVIEW OF THE LITERATUREJAMA Pediatrics, 65
C. Sarrouy , R. Cabannes (1957)
�tude des acides amines du sang et des urines au cours des syndrome de denutrition du nourrissohPresse méd., 65
F. Iber, T. Chalmers, L. Uzman (1957)
Studies of protein metabolism in hepatolenticular degeneration.Metabolism: clinical and experimental, 6 4
J. Dustin, S. Moore, E. Bigwood (1955)
Chromatographic studies on the excretion of amino acids in early infancy.Metabolism: clinical and experimental, 4 1
G. Fanconi (1936)
Der fr�hinfantile nephrotischglykosurische Zwergwuchs mit hypophosphat� mischer RachitisJahrb. Kinderh., 147
H. Nitowsky, C. Govan, H. Gordon (1953)
Effect of hemopoietic and other agents on the hydroxyphenyluria of premature infants.A.M.A. American journal of diseases of children, 85 4
J. M. Walshe (1953)
Disturbances of Amino Acid Metabolism Following Liver InjuryQuart. J. Med., 22
E. J. Katz (1954)
Amino-Aciduria Following Total Body Irradiation in Human BeingsJ. Lab. & Clin. Med., 44
H. R. Jackson (1953)
Cystinosis: Report of 2 Cases with Postmortem ExaminationA.M.A. Am. J. Dis. Child., 85
H. Sutton, J. Read (1958)
Abnormal amino acid metabolism in a case suggesting autism.A.M.A. journal of diseases of children, 96 1
D. Hsia, H. Hsia, S. Green, M. Kay, S. Gellis (1954)
Amino-aciduria in galactosemia.A.M.A. American journal of diseases of children, 88 4
H. Bickel, E. Hickmans (1952)
Appendix. Paper chromatographic investigations on the urine of patients R.T. and R.R.Archives of disease in childhood, 27 134
G. Fanconi (1949)
Die chronische Aminoacidurie (aminosaure Diabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykoserose und der CystinkrankheitHelvet. paediat. acta, 4
S. E. Snyderman (1958)
Metabolism of Amino AcidsPediatrics, 21
C. Eades, R. Pollack, J. Hardy (1955)
Thermal burns in man. IX. Urinary amino acid patterns.The Journal of clinical investigation, 34 12
D. J. McCune , H. H. Mason (1939)
Late Rickets with Glycosuria and Organic Acid Acidosis (Fanconi Type)Am. J. Dis. Child., 58
G. Fanconi (1946)
Weitere Beitr�ge zur Cystinkrankheit (der Amindiabetes)Helvet. paediat. acta, 1
S. Levine, E. Marples, H. Gordon (1939)
A DEFECT IN THE METABOLISM OF AROMATIC AMINO ACIDS IN PREMATURE INFANTS: THE ROLE OF VITAMIN C.Science, 90 2348
R. Salassa, M. Power, J. Ulrich, A. Hayles (1954)
Observations on the metabolic effects of vitamin D in Fanconi's syndrome.Proceedings of the staff meetings. Mayo Clinic, 29 8
W. Stein (1953)
A chromatographic investigation of the amino acid constituents of normal urine.The Journal of biological chemistry, 201 1
R. Hare (1950)
Endogenous Creatinine in Serum and Urine.∗ †Proceedings of the Society for Experimental Biology and Medicine, 74
S. Z. Levine , M. Dann (1943)
A Defect in the Metabolism of Tyrosine and Phenylalanine in Premature Infants: III. Demonstration of the Irreversible Conversion of Phenylalanine to Tyrosine in the Human OrganismJ. Clin. Chem., 22
Mung Cheung, D. Fowler, P. Norton, S. Snyderman, L. Holt (1955)
Observations on amino acid metabolism in kwashiorkor. (A preliminary report.).Journal of Tropical Pediatrics, 1
S. Levine, M. Dann, E. Marples (1943)
A DEFECT IN THE METABOLISM OF TYROSINE AND PHENYLALANINE IN PREMATURE INFANTS. III. DEMONSTRATION OF THE IRREVERSIBLE CONVERSION OF PHENYLALANINE TO TYROSINE IN THE HUMAN ORGANISM.The Journal of clinical investigation, 22 4
F. P. King (1951)
Cystinosis (Cystine-Storage Disease)A.M.A.J. Dis. Child., 82
B. S. Schweigert (1947)
Microbiologic Methods for the Estimation of Amino AcidsNutrition Abstr. & Rev., 16
A. Rothstein (1949)
Amino-Aciduria in Uranium PoisoningJ. Pharmacol. & Exper. Therap., 96
H. Beumer (1937)
�ber die Cystinkrankheit der ersten LebenszeitKlin. Wchnschr., 16
C. Dent (1948)
A study of the behaviour of some sixty amino-acids and other ninhydrin-reacting substances on phenol-;collidine' filter-paper chromatograms, with notes as to the occurrence of some of them in biological fluids.The Biochemical journal, 43 2
C. U. Lowe (1958)
Congenital Abnormalities of Amino Acid in Renal TubulesPediatrics, 21
A. Holzel, G. Komrower, V. Wilson (1952)
Amino-aciduria in GalactosaemiaBritish Medical Journal, 1
J. Walshe (1953)
Disturbances of aminoacid metabolism following liver injury; a study by means of paper chromatography.The Quarterly journal of medicine, 22 88
G. Medes (1932)
A new error of tyrosine metabolism: tyrosinosis. The intermediary metabolism of tyrosine and phenylalanine.The Biochemical journal, 26 4
J. J. Chisholm , H. C. Harrison, W. R. Eberlein (1955)
Amino Aciduria, Hypophosphatemia and Rickets in Lead PoisoningA.M.A.J. Dis. Child., 89
C. U. Lowe , M. Terrey (1952)
Organicaciduria, Decreased Renal Ammonia Production, Hydrophthalmos, and Mental RetardationA.M.A. Am. J. Dis. Child., 83
A. Steinberg, A. Szeinberg, B. Cohen (1957)
Amino-aciduria and Hypermetabolism in ProgeriaArchives of Disease in Childhood, 32
W. Sheldon, J. Luder, B. Webb (1955)
A Familial Tubular Absorption Defect of Glucose and Amino Acids*Archives of Disease in Childhood, 36
W.D.W. Brooks, M. Heasman, R.R.H. Lovell (1949)
Retinitis pigmentosa associated with cystinuria; two uncommon inherited conditions occurring in a family.Lancet, 1 6565
C. Gray, E. Illing (1952)
Plasma and urinary amino-acids in diabetes.The Journal of endocrinology, 8 1
P. J. Dragsted (1953)
Fanconi's SyndromeActa med. scandinav., 146
C. Sarrouy, I. Garcia, R. Cabannes, J. Clausse (1957)
[Study of amino acids in blood and urine during infant denutrition syndrome].La Presse medicale, 65 52
J. Dancis, M. Levitz, S. Miller, R. Westall (1959)
“Maple Syrup Urine Disease”British Medical Journal, 1
S. Moore (1954)
Procedures for the Chromatographic Determination of Amino Acids in 4% Cross-Linked Sulfonated Polystyrene ResinsJ. Biol. Chem., 211
C. E. Dent (1954)
Lectures on the Scientific Basis of Medicine, 2
W. D. W. Brooks , M. A. Heasman (1949)
Retinitis Pigmentosa Associated with CystinuriaLancet, 1
C. Dent, H. Harris (1951)
The genetics of cystinuria.Annals of eugenics, 16 1
D. J. McCune , H. H. Mason (1943)
Intractable Hypophosphatemic Rickets with Renal Glycosuria and Acidosis (The Fanconi Syndrome)Am. J. Dis. Child., 65
A. Hottinger (1947)
Zur CystindiatheseAnn. paediat., 169
H. Lewis (1932)
The Occurrence of Cystinuria in Healthy Young Men and WomenAnnals of Internal Medicine, 6
J. Cleland (1945)
Cystine, methionine and sulphate excretion in cystinuria.The Australian journal of experimental biology and medical science, 25
J. Gross , M. Comfort (1957)
Abnormalities of Serum and Urinary Amino Acids in Hereditary and Nonhereditary PancreatitisTr. A. Am. Physicians, 70
C. U. Lowe (1958)
Primary Chronic Metabolic Acidosis with Organic AciduriaMod. Prob. Pediat., 3
J. Degrouchy, Sutton He (1957)
A genetic study of beta-aminoisobutyric acid excretion.American Journal of Human Genetics, 9
E. F. Gale (1946)
The Bacterial Amino Acid DecarboxylasesAdvances Enzymol., 6
N. Kretchmer, D. Etzwiler (1958)
Disorders associated with the metabolism of phenylalanine and tyrosine.Pediatrics, 21 3
A. Cooper, R. Eckhardt, W. Faloon, C. Davidson (1950)
INVESTIGATION OF THE AMINOACIDURIA IN WILSON'S DISEASE (HEPATOLENTICULAR DEGENERATION): DEMONSTRATION OF A DEFECT IN RENAL FUNCTION.The Journal of clinical investigation, 29 3
D. Shemin (1945)
AMINO ACID DETERMINATIONS ON CRYSTALLINE BOVINE AND HUMAN SERUM ALBUMIN BY THE ISOTOPE DILUTION METHODJournal of Biological Chemistry, 159
V. K. Wilson , M. L. Thomson (1953)
Amino-Aciduria in Lead PoisoningLancet, 2
R. Debré , J. Marie, F. Cléret (1934)
Rachitisme tardif coexistant avec une n�phrite chronique et une glycosurieArch. méd. Enf., 37
D. Hsia, S. Gellis (1954)
Amino acid metabolism in infectious hepatitis.The Journal of clinical investigation, 33 12
A. G. Spencer (1952)
Gross Amino-Aciduria Following Lysol BurnLancet, 1
E. Page, M. Glendening, W. Dignam, H. Harper (1954)
The causes of histidinuria in normal pregnancy.American journal of obstetrics and gynecology, 68 1
V. Schwarz, A. Wells, A. Holzel, G. Komrower, I. Simpson (1955)
A Study of the Genetics of GalactosaemiaArchives of Disease in Childhood, 30
E. M. Darmady (1954)
Ciba Foundation Symposium on the Kidney
P. Doolan, H. Harper, M. Hutchin, E. Alpen (1956)
The renal tubular response to amino acid loading.The Journal of clinical investigation, 35 8
E. Freudenberg (1954)
Further observations on cystinosis.Annales De Pediatrie, 182
G. Medes (1932)
A New Error of Tyrosine Metabolism: TyrosinosisBiochem. J., 26
E. Lederer, C. Lederer (1953)
Chromatography : a review of principles and applications
S. Moore, W. Stein (1954)
Procedures for the chromatographic determination of amino acids on four per cent cross-linked sulfonated polystyrene resins.The Journal of biological chemistry, 211 2
A. Drabløs (1951)
The de Toni-Fanconi syndrome with cystinosis.Acta paediatrica, 40 5
H. Harrison, H. Harrison (1957)
Aminoaciduria in relation to deficiency diseases and kidney function.Journal of the American Medical Association, 164 14
G. A. Jervis (1950)
Excretion of Phenylalanine and Derivatives on Phenylpyruvic OligophreniaProc. Soc. Exper. Biol. & Med., 75
D. Fowler, P. Norton, Mung Cheung, E. Pratt (1957)
Observations on the urinary amino acid excretion in man; the influence of age and diet.Archives of biochemistry and biophysics, 68 2
G. Komrower, V. Schwarz, A. Holzel, L. Golberg (1956)
A Clinical and Biochemical Study of GalactosaemiaArchives of Disease in Childhood, 31
C. Dent, G. Rose (1951)
Aminoacid metabolism in cystinuria.The Quarterly journal of medicine, 20 79
C. Dent, B. Senior, J. Walshe (1954)
The pathogenesis of cystinuria. II. Polarographic studies of the metabolism of sulfur-containing amino-acids.The Journal of clinical investigation, 33 9
E. Freudenberg (1954)
Weitere Beobachtungen zur Frage der CystinosisAnn. paediat., 182
H. Schendel, A. Antonis, J. Hansen (1959)
Increased amino-aciduria in infants with kwashiorkor fed natural and synthetic diets.Pediatrics, 23 4
J. Gross, M. Comfort, J. Ulrich (1957)
Abnormalities of serum and urinary amino acids in hereditary and non-hereditary pancreatitis.Transactions of the Association of American Physicians, 70
J. Allan, D. Cusworth, C. Dent, V. Wilson (1958)
A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.Lancet, 1 7013
R. Consden, A. Gordon, A. Martin (1944)
Qualitative analysis of proteins: a partition chromatographic method using paper.The Biochemical journal, 38 3
A. Bearn (1957)
An Inborn Error of Metabolism with Multiple ManifestationsAm. J. Med., 22
D. Fowler, H. Harris, F. Warren (1952)
Plasma-cystine levels in cystinuria.The Lancet, 259
N. Verghese, P. Ramakrishnan (1957)
A Simple Method for Desalting Biological Fluids for Paper Chromatography of Amino-acidsJournal of Clinical Pathology, 10
R. Eckhardt, C. Davidson (1948)
URINARY EXCRETION OF AMINO ACIDS FOLLOWING THE RAPID INJECTION OF A SOLUTION OF AMINO ACIDS IN MAN.The Journal of clinical investigation, 27 6
H. Prakken (1952)
Case of Congenital CystinuriaJ. Pediat., 40
M. Mishad (1950)
SIMPLE TEST FOR PREGNANCYThe Lancet, 256
Abstract Introduction Interest in the detection of free amino acids in the urine has been stimulated by the development of chromatographic techniques.1-5 As a result, new genetically determined conditions have been described, such as glycinuria6 and "Hartnup" disease.7 A number of well-known diseases have been further characterized by the excretion of increased or abnormal amino acids in the urine, as in rickets, scurvy, galactosemia, Wilson's disease, lead poisoning, and burns. The detection of amino-aciduria in certain mentally disturbed children8,9 offers a new biochemical approach in the study of the basic disturbance and may even suggest genetic implications. Reference to the occurrence of amino-aciduria in patients with mental disturbances can be found in the studies on phenylketonuria10,11 and Lowe's syndrome,12 and in the reports by Allan et al.8 and by Sutton and Read.9 In this report we shall discuss the principles of paper chromatography, summarize References 1. Consden, R.; Gordon, A. H., and Martin, A. J. P.: Quantitative Analysis of Protein: A Partition Chromagraphic Method Using Paper , Biochem. J. 38:224, 1944. 2. Smith, I.: Chromatographic Techniques , New York, Interscience Publishers, Inc., 1958, pp. 94-96. 3. Block, R. J.; Durrum, E. L., and Zweig, G.: Paper Chromatography and Paper Electrophoresis , New York, Academic Press, Inc., 1955. 4. Dent, C. E.: A Study of the Behavior of Some 60 Amino Acids and Other Ninhydrin Reacting Substances on Phenol-'Collidine' Filter Paper Chromatograms with Notes as to the Occurrence of Some of Them in Biological Fluids , Biochem. J. 43:168, 1948. 5. Woolf, L. I.: Paper Chromatography , Great Ormond St. J. No. 1-2:61, 1951. 6. deVries, A.; Kochwa, S.; Lazebuik, J.; Frank, M., and Djaldetti, M.: Glycinuria, a Hereditary Disorder Associated with Nephrolithiasis , Am. J. Med. 23:408, 1957.Crossref 7. Baron, D. N.; Dent, C. E.; Harris, A.; Hart, E. W., and Jepson, J. B.: Hereditary Pellagra-like Skin Rash with Temporary Cerebellar Ataxia, Constant Renal Amino-Aciduria, and Other Bizarre Biochemical Features , Lancet 2: 421, 1956.Crossref 8. Allan, J. D.; Cusworth, D. C.; Dent, C. E., and Wilson, V. K.: A Disease, Probably Hereditary, Characterized by Severe Mental Deficiency and a Constant Gross Abnormality of Amino Acid Metabolism , Lancet 1:182, 1958.Crossref 9. Sutton, H. E., and Read, J. H.: Abnormal Amino Acid Metabolism in a Case Suggesting Autism , A.M.A. Am. J. Dis. Child. 96:23, 1958. 10. Jervis, G. J.; Block, R. J.; Bolling, D., and Kanze, E.: Chemical and Metabolic Studies on Phenylalanine , J. Biol. Chem. 134:105, 1940. 11. Knox, W. E., and Hsia, D. Y-Y.: Pathogenetic Problems in Phenylketonuria , Am. J. Med. 22:687, 1957.Crossref 12. Lowe, C. U.; Terrey, M., and MacLachlan, E. A.: Organicaciduria, Decreased Renal Ammonia Production, Hydrophthalmos, and Mental Retardation , A.M.A. Am. J. Dis. Child. 83:164, 1952. 13. Gale, E. F.: The Bacterial Amino Acid Decarboxylases , Advances Enzymol. 6:1, 1946. 14. Van Slyke, D. D.; MacFayden, D., and Hamilton, P. B.: The Gasometric Determination of Amino Acids in Urine by Ninhydrin-Carbon Dioxide Method , J. Biol. Chem. 150:251, 1943. 15. Schweigert, B. S., and Snell, E. E.: Microbiologic Methods for the Estimation of Amino Acids , Nutrition Abstr. & Rev. 16:497, 1947. 16. Shemin, D.: Amino Acid Determination on Crystalline Bovine and Human Serum Albumin by the Isotope Dilution Method , J. Biol. Chem. 159:439, 1945. 17. Lederer, E., and Lederer, M.: Chromatography, A Review of Principles and Applications , New York, Elsevier Press, Inc., 1957. 18. Hanes, C. S.: Personal communication to the authors. 19. Ma, T. S., and Zuazago, G.: Micro-Kjedahl Determination of Nitrogen, a New Indicator and an Improved Rapid Method , J. Indust. & Engin. Chem. (Analyt. Ed.) 14:280, 1942. 20. Lauson, H. D.: Sources of Error in Plasma Creatinine Determination , J. Appl. Physiol. 4:227, 1951. 21. Hare, R. S.: Endogenous Creatinine in Serum and Urine , Proc. Soc. Exper. Biol. & Med. 74:148, 1950. 22. Moore, S., and Stein, W. H.: Photometric Ninhydrin Method for Use in the Chromatography of Amino Acids , J. Biol. Chem. 176:367, 1948. 23. Moore, S., and Stein, W. H.: A Modified Ninhydrin Reagent for the Photometric Determination Amino Acids and Related Compound , J. Biol. Chem. 211:907, 1954. 24. Ghadimi, H.; Stern, M., and Shwachman, H.: A Study of the Free Amino Acids in Sweat from Patients with Cystic Fibrosis , A.M.A. J. Dis. Child. 99:333, 1960. 25. Dent, C. E.: Chromatography in the Study of Amino Acid Metabolism , in Lectures on the Scientific Basis of Medicine , 1951-52 to 1954-55, London, Athlone Press, 1954, Vol. 2, p. 213. 26. Moore, S., and Stein, W. H.: Chromatography of Amino Acids on Sulfonated Polystyrene Resins , J. Biol. Chem. 192:663, 1951. 27. Moore, S., and Stein, W. H.: Procedures for the Chromatographic Determination of Amino Acids in 4% Cross-Linked Sulfonated Polystyrene Resins , J. Biol. Chem. 211:893, 1954. 28. Verghese, N., and Ramakrishnan, P. N.: A Simple Method for Desalting Biological Fluids for Paper Chromatography of Amino-Acids , J. Clin. Path. 10:104, 1957.Crossref 29. Ghadimi, H., and Shwachman, H.: Unpublished data. 30. Huisman, T. H. J.: L'Elimination des acides amines chez des enfants normaux d'ages differents , Arch. franc. pédiat. 14:166, 1957. 31. Westall, R. G.: The Amino Acids and Other Ampholytes of Urine: III. Unidentified Substances Excreted in Normal Human Urine , Biochem. J. 60:247, 1955. 32. Childs, B.: Urinary Excretion of Free Alpha-Amino Acid Nitrogen by Normal Infants and Children , Proc. Soc. Exper. Biol. & Med. 81:225, 1952. 33. Rivier, C., and Jeanneret, M. R.: Observations sur l'aminoacidurie du nourrisson bienportant , Helvet. paediat. acta 11:489, 1956. 34. Fowler, D. I.; Norton, P. M.; Cheung, M. W., and Pratt, E. L.: Observations on the Urinary Amino Acid Excretion in Man: The Influence of Age and Diet , Arch. Biochem. & Biophys. 68:452, 1957. 35. Harper, H. A.; Hutchin, M. F., and Kimmel, J. R.: Concentrations of 19 Amino Acids in Plasma and Urine of Fasting Normal Males , Proc. Soc. Exper. Biol. & Med. 80:768, 1952. 36. Harrison, H. E., and Harrison, H. C.: Aminoaciduria in Relation to Deficiency Diseases and Kidney Function , J.A.M.A. 164:1571, 1957. 37. Doolan, P. D.; Harper, H. A.; Hutchin, M. E., and Shreeve, W. W.: Renal Clearance of 18 Individual Amino Acids in Human Subjects , J. Clin. Invest. 34:1247, 1955. 38. Doolan, P. D.; Harper, H. A.; Hutchin, M. E., and Alpen, E. L.: The Renal Tubular Response to Amino Acid Loading , J. Clin. Invest. 35:888, 1956. 39. Dent, C. E., and Walshe, J. M.: Aminoacid Metabolism , Brit. M. Bull. 10:247, 1954. 40. Dent, C. E.: The Renal Acidurias , in Colloque sur les acides amines , Paris, Masson & Cie., 1954, p. 229. 41. Stein, W. 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Harris, H.: in Amino Acid and Protein Metabolism , Report of the 30th Ross Conference on Pediatric Research, edited by S. J. Foman, Columbus, Ohio, Ross Laboratories, 1959, p. 106, 109. 75. Walshe, J. M.: Disturbances of Amino Acid Metabolism Following Liver Injury , Quart. J. Med. 22:483, 1953. 76. Hsia, D. Y-Y., and Gellis, S. S.: Amino Acid Metabolism in Infectious Hepatitis , J. Clin. Invest. 33:1603, 1954. 77. Jonxis, J. H. P., and Huisman, T. H. J.: Excretion of Amino Acid in Free and Bound Form During Intravenous Administration of Protein Hydrolysate , Metabolism 6:175, 1957. 78. Eckhardt, R. D., and Davidson, C.: Urinary Excretion of Amino Acids Following the Rapid Injection of a Solution of Amino Acid in Man , J. Clin. Invest. 29:727, 1948. 79. Christensen, H. N.;; Lynch, E. L., and Powers, J. H.: The Conjugated, Non-Protein, Amino Acids of Plasma: III. Peptidemia and Hyperpeptiduria as a Result of the Intravenous Administration of Partially Hydrolyzed Casein (Amigen) , J. 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E., and Harris, H.: Hereditary Forms of Rickets and Osteomalacia , J. Bone & Joint Surg. 38B:204, 1956. 87. Fanconi, G.: Weitere Beiträge zur Cystinkrankheit (der Amindiabetes) , Helvet. paediat. acta 1:183, 1946. 88. Fanconi, G., and Bickel, H.: Die chronische Aminoacidurie (aminosaure Diabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykoserose und der Cystinkrankheit , Helvet. paediat. acta 4:359, 1949. 89. Beumer, H., and Weppler, W.: Über die Cystinkrankheit der ersten Lebenszeit , Klin. Wchnschr. 16:8, 1937. 90. Hottinger, A.: Über Cystin-Diathese , Ann. paediat. 156:257, 1941. 91. Bürki, E.: Über Augenveränderungen bei der Cystinkrankheit , Ann. paediat. 156:324, 1941. 92. Freudenberg, E.: Weitere Beobachtungen zur Frage der Cystinosis , Ann. paediat. 182:85, 1954. 93. 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A.M.A. Journal of Diseases of Children – American Medical Association
Published: Apr 1, 1960
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