Literature DB >> 7911004

"Pseudodeficiencies" of lysosomal hydrolases.

G H Thomas1.   

Abstract

Mesh：

Substances：

Year:  1994        PMID： 7911004      PMCID： PMC1918197     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  54 in total

1.  Polymorphism of human alpha fucosidase.

Authors:  B M Turner; V S Turner; N G Beratis; K Hirschhorn
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

2.  The occurrence of low alpha-L-fucosidase activities in normal human serum.

Authors:  P Ramage; W L Cunningham
Journal:  Biochim Biophys Acta       Date:  1975-10-22

3.  Possible misdiagnosis of Krabbe disease.

Authors:  D A Wenger; V M Riccardi
Journal:  J Pediatr       Date:  1976-01       Impact factor: 4.406

4.  Segregation within a family of two mutant alleles for hexosaminidase A.

Authors:  T E Kelly; L W Reynolds; J S O'Brien
Journal:  Clin Genet       Date:  1976-05       Impact factor: 4.438

5.  Plasma alpha-L-fucosidase: presence of a low activity variant in some normal individuals.

Authors:  S Wood
Journal:  J Lab Clin Med       Date:  1976-09

6.  Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman.

Authors:  J Vidgoff; N R Buist; J S O'Brien
Journal:  Am J Hum Genet       Date:  1973-07       Impact factor: 11.025

7.  Absence of hexosaminidase A and B in a normal adult.

Authors:  J C Dreyfus; L Poenaru; L Svennerholm
Journal:  N Engl J Med       Date:  1975-01-09       Impact factor: 91.245

8.  Pseudodeficiency of alpha-iduronidase.

Authors:  H A Taylor; G H Thomas
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

9.  Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.

Authors:  G Dubois; K Harzer; N Baumann
Journal:  Am J Hum Genet       Date:  1977-03       Impact factor: 11.025

10.  Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells.

Authors:  R Gatti; C Borrone; M Filocamo; N Pannone; P Di Natale
Journal:  Prenat Diagn       Date:  1985 Mar-Apr       Impact factor: 3.050
View more
  12 in total

Review 1.  Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?

Authors:  I Maire
Journal:  J Inherit Metab Dis       Date:  2001       Impact factor: 4.982

2.  Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.

Authors:  S Regis; M Filocamo; M Stroppiano; F Corsolini; R Gatti
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

3.  Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.

Authors:  M B Coulter-Mackie; L Gagnier; M J Beis; D A Applegarth; D E Cole; K Gordon; M D Ludman
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

4.  Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

Authors:  H Rootwelt; E Brodtkorb; E A Kvittingen
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

5.  A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

Authors:  R Vervoort; M R Islam; W Sly; A Chabas; R Wevers; J de Jong; I Liebaers; W Lissens
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

6.  Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Authors:  A Morrone; K L Tylee; M Al-Sayed; A C Brusius-Facchin; A Caciotti; H J Church; M J Coll; K Davidson; M J Fietz; L Gort; M Hegde; F Kubaski; L Lacerda; F Laranjeira; S Leistner-Segal; S Mooney; S Pajares; L Pollard; I Ribeiro; R Y Wang; N Miller
Journal:  Mol Genet Metab       Date:  2014-03-20       Impact factor: 4.797

7.  Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.

Authors:  E L Aronovich; D Pan; C B Whitley
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

8.  Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.

Authors:  M B Coulter-Mackie; J Rip; M D Ludman; J Beis; D E Cole
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

Review 9.  Lysosomal storage disorders: molecular basis and laboratory testing.

Authors:  Mirella Filocamo; Amelia Morrone
Journal:  Hum Genomics       Date:  2011-03       Impact factor: 4.639

10.  A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.

Authors:  Frédérique Sabourdy; Pierre Labauge; Hilde Monica Frostad Riise Stensland; Michèle Nieto; Violeta Latorre Garcés; Dimitri Renard; Giovanni Castelnovo; Nicolas de Champfleur; Thierry Levade
Journal:  BMC Med Genet       Date:  2009-09-03       Impact factor: 2.103
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.