Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Fucosidosis: deficiency of alpha-L-fucosidase in cultured skin fibroblasts.

Literature DB >> 4624449

Fucosidosis: deficiency of alpha-L-fucosidase in cultured skin fibroblasts.

K Zielke, M L Veath, J S O'Brien.

Abstract

Entities: CellLine Disease

Mesh：

Substances：

Year: 1972 PMID： 4624449 PMCID： PMC2139183 DOI： 10.1084/jem.136.1.197

Source DB: PubMed Journal: J Exp Med ISSN： 0022-1007 Impact factor: 14.307

× No keyword cloud information.

6 in total

1. Protein measurement with the Folin phenol reagent.

Authors: O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal: J Biol Chem Date: 1951-11 Impact factor: 5.157

2. Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis).

Authors: H Loeb; M Tondeur; G Jonniaux; S Mockel-Pohl; E Vamos-Hurwitz
Journal: Helv Paediatr Acta Date: 1969-10

3. Fucosidosis.

Authors: P Durand; C Borrone; G Della Cella
Journal: J Pediatr Date: 1969-10 Impact factor: 4.406

4. Mucopolysaccharidosis by absence of alpha-fucosidase.

Authors: F Van Hoof; H G Hers
Journal: Lancet Date: 1968-06-01 Impact factor: 79.321

5. Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts.

Authors: M W Ho; J Seck; D Schmidt; M L Veath; W Johnson; R O Brady; J S O'Brien
Journal: Am J Hum Genet Date: 1972-01 Impact factor: 11.025

6. Fucosidosis: diagnosis by serum assay of alpha-L-fucosidase.

Authors: K Zielke; S Okada; J S O'Brien
Journal: J Lab Clin Med Date: 1972-01

6 in total

7 in total

1. Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.

Authors: Bobby G Ng; Jill A Rosenfeld; Lisa Emrick; Mahim Jain; Lindsay C Burrage; Brendan Lee; William J Craigen; David R Bearden; Brett H Graham; Hudson H Freeze
Journal: Am J Hum Genet Date: 2018-11-29 Impact factor: 11.025

2. Biochemical and genetic studies of plasma and leukocyte alpha-L-fucosidase.

Authors: W G Ng; G N Donnell; R Koch; W R Bergren
Journal: Am J Hum Genet Date: 1976-01 Impact factor: 11.025

3. Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.

Authors: Bobby G Ng; Gege Xu; Nandini Chandy; Joan Steyermark; Deepali N Shinde; Kelly Radtke; Kimiyo Raymond; Carlito B Lebrilla; Ali AlAsmari; Sharon F Suchy; Zöe Powis; Eissa Ali Faqeih; Susan A Berry; David F Kronn; Hudson H Freeze
Journal: Am J Hum Genet Date: 2018-01-04 Impact factor: 11.025