Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene-Reference-Cited by-同舟云学术

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Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene

Published:2011-07 Issue:15-16 Volume:412 Page:1469-1471
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Zhan Tailan,Cui Xiukun,Xing Xuenong,Ren An,Gan Guanqi,Liu Ying,Zhang Jing,Tang Zhaohui,Liu Mugen

Funder

Chinese National Natural Science Foundation

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference13 articles.

1. Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts;Hasilik;Biochem Biophys Res Commun,1981

2. Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5′-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity;Reitman;J Clin Invest,1981

3. Synthesis of phosphorylated recognition marker in lysosomal enzymes is located in the cis part of Golgi apparatus;Pohlmann;J Biol Chem,1982

4. Multiple lysosomal deficiency due to enzyme leakage?;Wiesmann;N Engl J Med,1971

5. I-cell disease: biochemical studies;Leroy;Pediatr Res,1972

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3. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update onGNPTABandGNPTGmutations;Human Mutation;2019-04-13

4. Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis;Orphanet Journal of Rare Diseases;2017-01-17

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