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References (32)
-
H. Sakuraba, A. Oshima, Y. Fukuhara, M. Shimmoto, Y. Nagao, D. Bishop, R. Desnick, Y. Suzuki (1990)
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.American journal of human genetics, 47 5
-
F. Sanger, A. Coulson, B. Barrell, A. Smith, B. Roe (1980)
Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing.Journal of molecular biology, 143 2
-
M. Goldman, R. Cantor, M. Schwartz, Maureen Baker, R. Desnick (1986)
Echocardiographic abnormalities and disease severity in Fabry's disease.Journal of the American College of Cardiology, 7 5
-
W. Colucci, B. Lorell, F. Schoen, M. Warhol, W. Grossman (1982)
Hypertrophic obstructive cardiomyopathy due to Fabry's disease.The New England journal of medicine, 307 15
-
Tsuyoshi Koide, M. Ishiura, Kunimitu Iwai, Michitoshi Inoue, Y. Kaneda, Y. Okada, T. Uchida (1990)
A case of Fabry's disease in a patient with no α‐galactosidase A activity caused by a single amino acid substitution of Pro‐40 by SerFEBS Letters, 259
-
J. Clarke, J. Knaack, J. Crawhall, L. Wolfe (1971)
Ceramide trihexosidosis (fabry's disease) without skin lesions.The New England journal of medicine, 284 5
-
E. Erdmann, H. Bolte, B. Strauer, G. Hübner (2008)
[Myocardial involvement in Fabry's disease (author's transl)].Deutsche medizinische Wochenschrift, 105 46
-
C. Roudebush, J. Foerster, O. Bing (1973)
The abbreviated PR interval of Fabry's disease.The New England journal of medicine, 289 7
-
Takurou Kobayashi, J. Kira, N. Shinnoh, I. Goto, Y. Kuroiwa (1985)
Fabry's disease with partially deficient hydrolysis of ceramide trihexosideJournal of the Neurological Sciences, 67
-
G. Bach, E. Rosenmann, Aharon Karni, T. Cohen (1982)
Pseudodeficiency of α‐galactosidase AClinical Genetics, 21
-
P. Fritz, H. Schneider, P. Heimburg, G. Wegner (1978)
[Secondary hypertrophic, obstructive cardiomyopathy in Fabry's disease].Die Medizinische Welt, 29 47
-
R. Desnick, Al-Shiabani Ky, S. Desnick, Mohanreddy Raman, R. Bernlohr, W. Krivit (1973)
Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes.The Journal of laboratory and clinical medicine, 81 2
-
G. Urbain, J. Peremans, M. Philippart (1967)
FABRY'S DISEASE WITHOUT SKIN LESIONS ?The Lancet, 289
-
R. Brady, A. Gal, R. Bradley, E. Mårtensson, A. Warshaw, L. Laster (1967)
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.The New England journal of medicine, 276 21
-
Anton Becker, Rein Schoorl, Anton Balk, R. Heide (1975)
Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction.The American journal of cardiology, 36 6
-
R. Kornreich, R. Desnick, D. Bishop (1989)
Nucleotide sequence of the human a-galactosidase A geneNucleic Acids Research
-
Harold Bernstein, David Bishop, K. Astrin, R. Kornreich, Christine Eng, Hitoshi Sakuraba, Robert Desnick (1989)
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.The Journal of clinical investigation, 83 4
-
Kiyoko Ogawa, Kiyoko Ogawa, Kumiko Sugamata, Kumiko Sugamata, N. Funamoto, N. Funamoto, T. Abe, T. Abe, Tomohide Sato, Tomohide Sato, K. Nagashima, Kazuo Nagashima, S. Ohkawa, Shingo Ohkawa (1990)
Restricted accumulation of globotriaosylceramide in the hearts of atypical cases of Fabry's disease.Human pathology, 21 10
-
D. Bishop, R. Desnick (1981)
Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms.The Journal of biological chemistry, 256 3
-
J. Mehta, N. Tuna, J. Moller, R. Desnick (1977)
Electrocardiographic and vectorcardiographic abnormalities in Fabry's disease.American heart journal, 93 6
-
C. Wong, C. Dowling, R. Saiki, R. Higuchi, H. Erlich, H. Kazazian (1987)
Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNANature, 330
-
R. Desnick, G. Dawson, S. Desnick, C. Sweeley, W. Krivit (1971)
Diagnosis of glycosphingolipidoses by urinary-sediment analysis.The New England journal of medicine, 284 14
-
S. Chatterjee, K. Clarke, P. Kwiterovich (1986)
Regulation of synthesis of lactosylceramide and long chain bases in normal and familial hypercholesterolemic cultured proximal tubular cells.The Journal of biological chemistry, 261 29
-
D. Bishop, D. Calhoun, H. Bernstein, P. Hantzopoulos, M. Quinn, R. Desnick (1986)
Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.Proceedings of the National Academy of Sciences of the United States of America, 83 13
-
J. Chirgwin, A. Przybyla, Raymond MacDonald, W. Rutter (1979)
Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease.Biochemistry, 18 24
-
J. Hamburger, J. Dormont, H. DeMontera, N. Hinglais (1964)
[ON AN UNUSUAL FAMILIAL MALFORMATION OF THE RENAL EPITHELIUM].Schweizerische medizinische Wochenschrift, 94
-
R. Desnick, L. Blieden, H. Sharp, Phillip Hofschire, J. Moller (1976)
Cardiac Valvular Anomalies in Fabry Disease: Clinical, Morphologic, and Biochemical StudiesCirculation, 54
-
V. Ferrans, V. Ferrans, R. Hibbs, R. Hibbs, Christopher Burda, Christopher Burda (1969)
The heart in Fabry's disease. A histochemical and electron microscopic study.The American journal of cardiology, 24 1
-
R. Kornreich, D. Bishop, R. Desnick (1990)
Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.The Journal of biological chemistry, 265 16
-
P. Strasberg, I. Warren, M. Skomorowski, J. Lowden (1983)
HPLC analysis of neutral glycolipids: an aid in the diagnosis of lysosomal storage disease.Clinica chimica acta; international journal of clinical chemistry, 132 1
-
R. Desnick, C. Sweeley, W. Krivit (1970)
A method for the quantitative determination of neutral glycosphingolipids in urine sediment.Journal of lipid research, 11 1
-
R. Saiki, S. Scharf, F. Faloona, K. Mullis, G. Horn, H. Erlich, N. Arnheim (1985)
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.Science, 230 4732
- Publisher
- The New England Journal of Medicine
- ISSN
- 0028-4793
- eISSN
- 1533-4406
- DOI
- 10.1056/NEJM199102073240607
- pmid
- 1846223
- Publisher site
- See Article on Publisher Site
Abstract
FABRY'S DISEASE is an X-linked recessive disorder resulting from deficient activity of the lysosomal hydrolase α-galactosidase A.1-3 The enzymatic defect leads to the progressive accumulation of neutral glycosphingolipids with terminal α-galactosyl moieties (particularly globotriaosylceramide) in the lysosomes of vascular endothelial and smooth-muscle cells throughout the body. In classically affected males, who have no detectable α-galactosidase A activity, the onset of disease manifestations occurs in childhood or adolescence and is characterized by severe acroparesthesias, angiokeratoma, corneal opacities, and hypohidrosis. The cardiac manifestations result from the accumulation of globotriaosylceramide in the myocytes, leading to myocardial failure; in coronary endothelial cells, resulting . . .
Journal
The New England Journal of Medicine – The New England Journal of Medicine
Published: Feb 7, 1991