Literature DB >> 4200718

Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells.

G H Thomas, H A Taylor, L W Reynolds, C S Miller.   

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Year:  1973        PMID： 4200718     DOI： 10.1203/00006450-197309000-00004

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


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  20 in total

Review 1.  Sialidosis: a review of human neuraminidase deficiency.

Authors:  J A Lowden; J S O'Brien
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

2.  Carbohydrate composition of purified serum glycoproteins in mucolipidosis II and mucolipidosis III.

Authors:  H Freeze; B C Kress; J C Williams; M Cerda-Ruiz; A L Miller
Journal:  Mol Cell Biochem       Date:  1978-10-13       Impact factor: 3.396

3.  Accumulation of [3H]sialyl-conjugates in sialidosis (sialidase-deficient) fibroblasts cultured in the presence of [3H]-N-acetylmannosamine.

Authors:  J Scocca; G H Thomas; L Reynolds; C S Miller
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

4.  Five related Lebanese individuals with high plasma lysosomal hydrolases: a new defect in mannose-6-phosphate receptor recognition?

Authors:  D Alexander; G Dudin; F Talj; F Bitar; M Deeb; A Khudr; M Abboud; V M Der Kaloustian
Journal:  Am J Hum Genet       Date:  1984-09       Impact factor: 11.025

5.  A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

Authors:  Jules G Leroy; David Sillence; Tim Wood; Jarrod Barnes; Robert Roger Lebel; Michael J Friez; Roger E Stevenson; Richard Steet; Sara S Cathey
Journal:  Eur J Hum Genet       Date:  2013-09-18       Impact factor: 4.246

6.  Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder.

Authors:  G H Thomas; C S Miller; K E Toomey; L W Reynolds; M L Reitman; A Varki; A Vannier; K N Rosebaum; W B Bias; B H Schofield
Journal:  Am J Hum Genet       Date:  1982-07       Impact factor: 11.025

7.  Endocytosis of beta-N-acetylglucosaminidase from sections of mucolipidosis-II and-III fibroblasts by non-parenchymal rat liver cells.

Authors:  K Ullrich; K von Figura
Journal:  Biochem J       Date:  1979-07-15       Impact factor: 3.857

8.  Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs.

Authors:  Katarzyna A Ellsworth; Laura M Pollard; Sara Cathey; Tim Wood
Journal:  JIMD Rep       Date:  2016-07-28

9.  A study of highly purified mucolipidosis III urinary N-acetyl-beta-D-hexosaminidase B.

Authors:  S Hirani; L Little; A L Miller
Journal:  Biochem J       Date:  1982-05-15       Impact factor: 3.857

10.  Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

Authors:  S S Cathey; J G Leroy; T Wood; K Eaves; R J Simensen; M Kudo; R E Stevenson; M J Friez
Journal:  J Med Genet       Date:  2009-07-16       Impact factor: 6.318
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