Literature DB >> 5539345

Ceramide trihexosidosis (fabry's disease) without skin lesions.

J T Clarke, J Knaack, J C Crawhall, L S Wolfe.   

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Year:  1971        PMID: 5539345     DOI: 10.1056/NEJM197102042840503

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  17 in total

1.  Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

Authors:  S Ishii; H Sakuraba; Y Suzuki
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

Review 2.  Glycosphingolipid hydrolases: properties and molecular genetics.

Authors:  M Wan Ho; A G Norden; J A Alhadeff; J S O'Brien
Journal:  Mol Cell Biochem       Date:  1977-10-07       Impact factor: 3.396

3.  Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia.

Authors:  M W Spence; J T Clarke; D M D'Entremont; G A Sapp; E R Smith; A L Goldbloom; G Davar
Journal:  J Med Genet       Date:  1978-12       Impact factor: 6.318

Review 4.  The skin in genetically-controlled metabolic disorders.

Authors:  P C Newbold
Journal:  J Med Genet       Date:  1973-06       Impact factor: 6.318

5.  [Neurological symptoms in Fabry's disease. Report of a case with neuromuscular symptoms and review of the literature].

Authors:  H Pilz; E Volles; H A Paul; A Denden
Journal:  Z Neurol       Date:  1972

6.  Gut lesions in Fabry's disease without a rash.

Authors:  D M Flynn; B D Lake; C B Boothby; E P Young
Journal:  Arch Dis Child       Date:  1972-02       Impact factor: 3.791

7.  FABRY'S DISEASE: A Case Report.

Authors:  Abha K Sabhikhi; P P Verma; P S Reddy; H Kumar; Ramji Rai
Journal:  Med J Armed Forces India       Date:  2017-06-26

8.  Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.

Authors:  A M Pierides; G Holti; A L Crombie; D F Roberts; S E Gardiner; A Colling; J Anderson
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

Review 9.  "Pseudodeficiencies" of lysosomal hydrolases.

Authors:  G H Thomas
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

Review 10.  Enzyme replacement therapy of Fabry disease.

Authors:  Joe T R Clarke; R Mark Iwanochko
Journal:  Mol Neurobiol       Date:  2005-08       Impact factor: 5.590

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