I-Cell Disease Presenting with Severe Hypophosphatemia and Cardiomyopathy-Reference-Cited by-同舟云学术

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I-Cell Disease Presenting with Severe Hypophosphatemia and Cardiomyopathy

Published:2000-02 Issue:1 Volume:31 Page:49-50
ISSN:0174-304X
Container-title:Neuropediatrics
language:
Short-container-title:Neuropediatrics

Author:

Bocca G.,Noordam C.,Wevers R. A.,de Jong J. G.N.,van der Meer W.,de Keijzer M. H.,Korver C. R.W.,Smeitink J. A.M.

Publisher

Georg Thieme Verlag KG

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-2000-15300.pdf

Cited by 5 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. Análisis mutacional de GNPTAB para el diagnóstico molecular de mucolipidosis tipo II (I-cell disease). Descripción de dos nuevas mutaciones sin sentido asociadas con la enfermedad;Revista del Laboratorio Clínico;2011-01

2. Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III;American Journal of Medical Genetics Part A;2009-12

3. Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA;Human Mutation;2005

4. Mucolipidosis II presenting as severe neonatal hyperparathyroidism;European Journal of Pediatrics;2004-12-03

5. Defective proximal tubular function in a patient with I-cell disease;Pediatric Nephrology;2003-08-01

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