Literature DB >> 4683418

Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes.

R J Desnick, K Y Allen, S J Desnick, M K Raman, R W Bernlohr, W Krivit.   

Abstract

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Year:  1973        PMID： 4683418

Source DB:  PubMed          Journal:  J Lab Clin Med        ISSN： 0022-2143


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  87 in total

Review 1.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

2.  Anderson-Fabry disease in Austria.

Authors:  Matthias Lorenz; Anna-Christina Hauser; Margot Püspök-Schwarz; Peter Kotanko; Ingrid Arias; Herbert Zodl; Reinhard Kramar; Eduard Paschke; Till Voigtländer; Gere Sunder-Plassmann
Journal:  Wien Klin Wochenschr       Date:  2003-04-30       Impact factor: 1.704

3.  Coronary intimal sclerosis in Morquio's syndrome.

Authors:  S M Factor; L Biempica; S Goldfischer
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1978-08-04

4.  Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes.

Authors:  R J Desnick; K J Dean; G Grabowski; D F Bishop; C C Sweeley
Journal:  Proc Natl Acad Sci U S A       Date:  1979-10       Impact factor: 11.205

5.  Feasibility of using cryopreserved lymphoblastoid cells to diagnose some lysosomal storage diseases.

Authors:  A S de Mello; F Provin; K Michelin-Tireli; M V Camelier; J C Coelho
Journal:  Cell Prolif       Date:  2010-04       Impact factor: 6.831

6.  Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele.

Authors:  T F Fitzmaurice; R J Desnick; D F Bishop
Journal:  J Inherit Metab Dis       Date:  1997-09       Impact factor: 4.982

7.  High prevalence of subclinical hypothyroidism in patients with Anderson-Fabry disease.

Authors:  A C Hauser; A Gessl; M Lorenz; T Voigtländer; M Födinger; G Sunder-Plassmann
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

8.  The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

Authors:  A C Vedder; G E Linthorst; M J van Breemen; J E M Groener; F J Bemelman; A Strijland; M M A M Mannens; J M F G Aerts; C E M Hollak
Journal:  J Inherit Metab Dis       Date:  2007-01-05       Impact factor: 4.982

9.  External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study.

Authors:  G J G Ruijter; M Boer; C W Weykamp; R de Vries; I van den Berg; J Janssens-Puister; K Niezen-Koning; R A Wevers; B J H M Poorthuis; O P van Diggelen
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

10.  Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.

Authors:  Marcella A Wozniak; Steven J Kittner; Stanley Tuhrim; John W Cole; Barney Stern; Mark Dobbins; Marie E Grace; Irina Nazarenko; Robert Dobrovolny; Eric McDade; Robert J Desnick
Journal:  Stroke       Date:  2009-12-10       Impact factor: 7.914
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