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H. Bickel, J. Gerrard, E. Hickmans (1954)
The Influence of Phenylalanine Intake on the Chemistry and Behaviour of a Phenylketonuria ChildActa Pædiatrica, 43
N.P. Forbes (1965)
Maternal PhenylketonuriaNurs Outlook, 14
N.K. Gibbs (1959)
Tests for Phenylketonuria: Results of a One-Year Programme for its Detection in Infancy Among Mental DefectivesBrit Med J, 2
Ross Vm (1966)
An internship for leadership in nursing. A combined education-service program.Nursing Outlook, 14
J. Langdell (1965)
PHENYLKETONURIA: EIGHT-YEAR EVALUATION OF TREATMENT.Archives of general psychiatry, 12
Harold Caudle (1960)
Phenylketonuria without Mental RetardationPediatrics
D. Hsia, W. Knox, K. Quinn, R. Paine (1958)
A one-year, controlled study of the effect of low-phenylalanine diet on phenylketonuria.Pediatrics, 21 2
B. Umbarger (1960)
Phenylketonuria-treating the disease and feeding the child.American journal of diseases of children, 100
H. Bickel (1963)
Phenylketonuria
R. Guthrie, Ada Susi (1963)
A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.Pediatrics, 32
M.D. Armstrong (1957)
Studies on Phenylketonuria: Relation Between Age, Serum Phenylalanine Level and Phenylpyruvic Acid SecretionPro Soc Exp Biol Med, 94
R. Paine (1957)
The variability in manifestations of untreated patients with phenylketonuria (phenylpyruvic aciduria).Pediatrics, 20 2
H. Bickel (1953)
Influence of Phenylalanine Intake on PhenylketonuriaLancet, 2
W. Centerwall, S. Centerwall, V. Armon, L. Mann (1961)
Phenylketonuria. II. Results of treatment of infants and young children. A report of 10 cases.The Journal of pediatrics, 59
A. Fölling (1934)
Ueber Ausscheidung von Phenylbrenztraubensaure in den Harn als Staffwechselanomalie in Verbindung mit Imbezilitaet, (Excretion of Urinary Phenylpyruvic Acid as a Metabolic Anomaly in Connection With Imbecility.)Hoppe Seyler Z Physiol Chem, 227
N. Kretchmer, D. Etzwiler (1958)
Disorders associated with the metabolism of phenylalanine and tyrosine.Pediatrics, 21 3
G. Jervis (1939)
The Genetics of Phenylpyruvic OligophreniaBritish Journal of Psychiatry, 85
P. Berman, F. Graham, P. Eichman, H. Waisman (1961)
Psychologic and neurologic status of diet-treated phenylketonuric children and their sibligs.Pediatrics, 28
(1961)
PKU. A Diet Guide for Parents of Children with Phenylketonuria
M. McCaman, E. Robins (1962)
Fluorimetric method for the determination of phenylalanine in serumJournal of Laboratory and Clinical Medicine, 59
F. Horner, C. Streamer, D. Clader, L. Hassell, E. Binkley, K. Dumars (1957)
Effect of phenylalanine-restricted diet in phenylketonuria. II.A.M.A. journal of diseases of children, 93 6
M. Armstrong, F. Tyler (1955)
Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria.The Journal of clinical investigation, 34 4
E. Kang (1965)
Clinical Observations in PKUPediatrics, 35
W. Centerwall, S. Centerwall, P. Acosta, R. Chinnock (1961)
Phenylketonuria. I. Dietary management of infants and young children.The Journal of pediatrics, 59
R. Platou, P. Beaver (1957)
Visceral Larva MigransActa Pædiatrica, 46
L. Woolf, R. Griffiths, A. Moncrieff (1955)
Treatment of Phenylketonuria with a Diet Low in PhenylalanineBritish Medical Journal, 1
R. Guthrie (1961)
Blood Screening for PhenylketonuriaJAMA, 178
H. Bickel , J. Gerrard, E.M. and Hickmaus (1954)
The Influence of Phenylalanine Intake on the Chemistry and Behavior of a Phenylketonuric ChildActa Paediat, 46
L.S. Penrose (1935)
Inheritance of Phenylpyruvic AmentiaLancet, 2
W. Centerwall, R. Chinnock, A. Pusavat (1960)
Phenylketonuria: screening programs and testing methods.American journal of public health and the nation's health, 50
B. Du (1959)
The importance of early diagnosis and treatment of phenylketonuria.Annals of Internal Medicine, 51
H. Berry, B. Sutherland, G. Guest, B. Umbarger (1958)
Chemical and clinical observations during treatment of children with phenylketonuria.Pediatrics, 21 6
Menkes Jh, Avery Me (1963)
The metabolism of phenylalanine and tyrosine in the premature infant.Bulletin of the Johns Hopkins Hospital, 113
H. Berry, B. Sutherland, B. Umbarger (1966)
Diagnosis and treatment: interpretation of results of blood screening studies for detection of phenylketonuria.Pediatrics, 37 1
G. Cunningham (1966)
Phenylketonuria. Early detection, diagnosis and treatment.California medicine, 105 1
B. Rouse (1966)
Phenylalanine deficiency syndrome.The Journal of pediatrics, 69 2
R.A. MacCready (1964)
Newborn Phenylketonuria Program in Massachusetts—A Progress ReportAmer J Public Health, 54
H. Bickel (1961)
Prophylaxe und Behandlung der Phenylketonurie, (Prophylaxis and Treatment of Phenylketonuria: A Preliminary Report)Deutsch Med Wschr, 86
F. Horner, C. Streamer, L. Alejandrino, L. Reed, F. Ibbott (1962)
Termination of dietary treatment of phenylketonuria.The New England journal of medicine, 266
W. Knox (1960)
An evaluation of the treatment of phenylketonuria with diets low in phenylalanine.Pediatrics, 26
G.A. Jervis (1939)
The Genetics of Phenylpyruvic Oliogophrenia, (A Contribution to the Study of the Influence of Heredity on Mental Defect)J Ment Sc, 85
M. Efron (1965)
AminoaciduriaNew Eng J Med, 272
S. Losin, Charles McKean (1966)
Preliminary Communication:Chlorzoxazone (Parafiex) in the Treatment of Severe SpasticityDevelopmental Medicine & Child Neurology, 8
E. Kang, Joseph Kennedy, Lorraine Gates, Ida Burwash, Ann McKinnon (1965)
CLINICAL OBSERVATIONS IN PHENYLKETONURIA.Pediatrics, 35
F. Horner, C. Streamer (1956)
Effect of a phenylalanine-restricted diet on patients with phenylketonuria; clinical observations in three cases.Journal of the American Medical Association, 161 17
John Anderson, R. Fisch, E. Miller, D. Doeden (1966)
Atypical phenylketonuric heterozygoteThe Journal of Pediatrics, 68
R. MacCready, M. Hussey (1964)
NEWBORN PHENYLKETONURIA DETECTION PROGRAM IN MASSACHUSETTS.American journal of public health and the nation's health, 54
H. Berry, B. Sutherland, G. Guest, J. Warkany (1958)
Simple method for detection of phenylketonuria.Journal of the American Medical Association, 167 18
G.A. Jervis (1937)
Phenylpyruvic Oligophrenia: Introductory Study of 50 Cases of Mental Deficiency Associated With Excretion of Phenylpyruvic AcidArch Neurol, 38
L. Woolf, C. Ounsted, D. Lee, M. Humphrey, N. Cheshire, G. Steed (1961)
ATYPICAL PHENYLKETONURIA IN SISTERS WITH NORMAL OFFSPRINGThe Lancet, 278
M. Partington (1961)
The early symptoms of phenylketonuria.Pediatrics, 27
Abstract THE DISEASE phenylketonuria (PKU) was described over 30 years ago,1-4 but treatment aimed at preventing the neurologic sequellae of the disease is recent.5-12 Institution of a phenylalanine-restricted diet mitigates or actually seems to prevent the occurrence of mental retardation when the diagnosis is made in early infancy.13-17 The recent development of screening programs18-21 to detect PKU, utilizing techniques applicable to the newborn nursery, has provided the clinician an unusual opportunity to obviate or minimize the occurrence of mental retardation in affected infants. On the basis of case finding in newborn screening programs the estimate of the incidence of PKU has been doubled from one case in approximately 20,000 births to one in 10,000 births. Some questions have been raised as to whether all of the cases thus detected are truly classic PKU cases.22,23 On the basis of the evidence thus far presented it would appear References 1. Fölling, A.: Ueber Ausscheidung von Phenylbrenztraubensaure in den Harn als Staffwechselanomalie in Verbindung mit Imbezilitaet, (Excretion of Urinary Phenylpyruvic Acid as a Metabolic Anomaly in Connection With Imbecility.) Hoppe Seyler Z Physiol Chem 227:169-176, 1934.Crossref 2. Wright, S.W.: Phenylketonuria , JAMA 165: 2079-2083, 1957.Crossref 3. Penrose, L.S.: Inheritance of Phenylpyruvic Amentia , Lancet 2:192-194, 1935.Crossref 4. Jervis, G.A.: The Genetics of Phenylpyruvic Oliogophrenia, (A Contribution to the Study of the Influence of Heredity on Mental Defect) , J Ment Sc 85:719-762, 1939. 5. Bickel, H.: Influence of Phenylalanine Intake on Phenylketonuria , Lancet 2:812-813, 1953.Crossref 6. Bickel, H.; Gerrard, J.; and Hickmaus, E.M.: The Influence of Phenylalanine Intake on the Chemistry and Behavior of a Phenylketonuric Child , Acta Paediat 46:64-77, 1954.Crossref 7. Woolf, L.I.; Griffiths, R.; and Moncrieff, A.: Treatment of Phenylketonuria with a Diet Low in Phenylalanine , Brit Med J 1:57-64, 1955.Crossref 8. Armstrong, M.D., and Tyler, F.H.: Studies on Phenylketonuria: Restricted Phenylalanine Intake in Phenylketonuria , J Clin Invest 34:565-580, 1955.Crossref 9. Horner, F.A., and Streamer, C.W.: Effect of a Phenylalanine-Restricted Diet on Patients With Phenylketonuria: Clinical Observations in Three Cases , JAMA 161:1628-1630, 1956.Crossref 10. Horner, F.A., et al: Effect of Phenylalanine-Restricted Diet in Phenylketonuria , Amer J Dis Child 93:615-618, 1957. 11. Hsia, D.Y-Y., et al: A One-Year Controlled Study of the Effect of Low Phenylalanine Diet on Phenylketonuria , Pediatrics 21:178-202, 1958. 12. Berry, H.K., et al: Chemical and Clinical Observations During Treatment of Children with Phenylketonuria , Pediatrics 21:929-940, 1958. 13. LaDu, B.N.: The Importance of Early Diagnosis and Treatment of Phenylketonuria , editorial, Ann Intern Med 51:1427-1433, 1959.Crossref 14. Knox, W.E.: An Evaluation of the Treatment of Phenylketonuria With Diets Low in Phenylalanine , Pediatrics 26:1-11, 1961. 15. Centerwall, W.R., et al: Phenylketonuria: Dietary Management of Infants and Young Children , J Pediat 59:93-101, 1961.Crossref 16. Berman, P.W., et al: Psychologic and Neurologic Status of Diet-Treated Phenylketonuric Children and Their Siblings , Pediatrics 28:924-934, 1961. 17. Bickel, H., and Gruter, W.P.: Prophylaxe und Behandlung der Phenylketonurie, (Prophylaxis and Treatment of Phenylketonuria: A Preliminary Report) , Deutsch Med Wschr 86:39-43, 1961.Crossref 18. Guthrie, R.: Blood Screening for Phenylketonuria , LETTERS TO THE JOURNAL, JAMA 178:863, 1961.Crossref 19. Centerwall, W.R.; Chinnock, R.F.; and Pusavat, A.: Phenylketonuria: Screening Programs and Testing Methods , Amer J Public Health 50:1667-1677, 1960.Crossref 20. Gibbs, N.K., and Woolf, L.I.: Tests for Phenylketonuria: Results of a One-Year Programme for its Detection in Infancy Among Mental Defectives , Brit Med J 2:532-535, 1959.Crossref 21. Berry, H.K.; Sutherland, B.; and Guest, G.M.: Simple Method for Detection of Phenylketonuria , JAMA 167:2189-2190, 1958.Crossref 22. Berry, H.K.; Sutherland, B.S.; and Umbarger, B.: Diagnosis and Treatment: Interpretation of Results of Blood Screening Studies for Detection of Phenylketonuria , Pediatrics 37:102, 1966. 23. Efron, M.: Aminoaciduria , New Eng J Med 272:1058, 1965.Crossref 24. Caudle, H.V.: Phenylketonuria Without Mental Retardation , Letters to the Editor, Pediatrics 26:502, 1960. 25. Kang, E., et al: Clinical Observations in PKU , Pediatrics 35:932, 1965. 26. MacCready, R.A., and Hussey, M.G.: Newborn Phenylketonuria Program in Massachusetts—A Progress Report , Amer J Public Health 54:2075, 1964.Crossref 27. Rouse, M.: Phenylalanine Deficiency Syndrome , J Pediat 69:246, 1966.Crossref 28. Wright, S.W., and Tarjan, G.: Phenylketonuria , Amer J Dis Child 93:405-419, 1957.Crossref 29. Jervis, G.A.: Phenylpyruvic Oligophrenia: Introductory Study of 50 Cases of Mental Deficiency Associated With Excretion of Phenylpyruvic Acid , Arch Neurol 38:944-963, 1937.Crossref 30. Paine, R.S.: Variability in Manifestations of Untreated Patients With Phenylketonuria Phenylpyruvic Aciduria) , Pediatrics 20:290-302, 1947. 31. Partington, M.W.: The Early Symptoms of Phenylketonuria , Pediatrics 27:465-473, 1961. 32. Auerbach, V.H., et al: Phenylalaninemia, abstracted before the Society of Pediatric Research, 35th Annual Meeting, Philadelphia, May, 1965. 33. Guthrie, R., and Susi, A.: A Simple Phenylalanine Method for Detecting Phenylketonuria in Large Populations of Newborn Infants , Pediatrics 32:338, 1963. 34. Cunningham, G.C.: Phenylketonuria: Early Detection, Diagnosis and Treatment , Calif Med 105: 1, 1966. 35. McCaman, M.W., and Robins, E.: Fluorimetric Method for the Determination of Phenylalanine in Serum , J Lab Clin Med 59:885-890, 1962. 36. Menkes, J.: The Metabolism of Phenylalanine and Tyrosine in the Premature Infant , Bull Hopkins Hosp 113:301, 1963. 37. Forbes, N.P., et al: Maternal Phenylketonuria , Nurs Outlook 14:40-42, 1965. 38. Anderson, J.A., et al: Atypical Phenylketonuric Heterozygote , J Pediat 68:351-360, 1966.Crossref 39. Centerwall, W.R., et al: Phenylketonuria: Results of Treatment of Infants and Young Children: A Report of 10 Cases , J Pediat 59:102-118, 1961.Crossref 40. Armstrong, M.D., and Low, N.L.: Studies on Phenylketonuria: Relation Between Age, Serum Phenylalanine Level and Phenylpyruvic Acid Secretion , Pro Soc Exp Biol Med 94:142-146, 1957.Crossref 41. Woolf, L.I., et al: Atypical Phenylketonuria in Sisters With Normal Offspring , Lancet 2:464-465, 1961.Crossref 42. Horner, F.A., et al: Termination of Dietary Treatment of Phenylketonuria , New Eng J Med 266: 79-81, 1962.Crossref 43. Langdell, J.I.: Phenylketonuria , Arch Gen Psychiat 12:363, 1965.Crossref 44. Bickel, H., and Gruter, W.: " Management of Phenylketonuria ," in Frank Lyman (ed.): Phenylketonuria , Springfield, Ill: Charles C Thomas, Publisher, 1963, pp 136-172. 45. Kretchmer, N., and Etzwiler, D.D.: Disorders Associated With Metabolism of Phenylalanine and Tyrosine , Pediatrics 21:445-475, 1958. 46. PKU. A Diet Guide for Parents of Children with Phenylketonuria . Berkeley, Calif: Calif State Department of Public Health, Bureau of Public Health Nutrition, 1961. 47. Umbarger, B.J.: Phenylketonuria. Treating the Disease and Feeding the Child , Amer J Dis Child 100:908-913, 1960.
American Journal of Diseases of Children – American Medical Association
Published: Jan 1, 1967
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