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Lysosomal disorders

Published:1997-06 Issue:2 Volume:7 Page:128-134
ISSN:0957-5839
Container-title:Current Paediatrics
language:en
Short-container-title:Current Paediatrics

Author:

Besley G.T.N.,Wraith J.E.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference5 articles.

1. Lysosomal disorders;Besley,1994

2. Lysosomal storage disease;Gieselmann;Biochim Biophys Acta,1995

3. The biogenesis of lysosomes;Kornfeld;Annu Rev Cell Biol,1989

4. The metabolic and molecular bases of inherited disease,1995

5. Mucopolysaccharidoses;Wraith;Current Paediatrics,1996

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing;Frontiers in Genetics;2023-09-11

2. Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis;Diagnostics;2021-08-31

3. Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II);International Journal of Molecular Sciences;2019-12-23

4. Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis;Scientific Reports;2019-07-24

5. Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan;Orphanet Journal of Rare Diseases;2018-05-25

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