Severe Failure to Thrive and Liver Dysfunction as the Main Manifestations of a New Variant of Niemann-Pick Disease-Reference-Cited by-同舟云学术

Severe Failure to Thrive and Liver Dysfunction as the Main Manifestations of a New Variant of Niemann-Pick Disease

Published:1994-10 Issue:10 Volume:33 Page:628-630
ISSN:0009-9228
Container-title:Clinical Pediatrics
language:en
Short-container-title:Clin Pediatr (Phila)

Author:

Reif Shimon¹,Spirer Zvi¹,Messer Glenda²,Baratz Miryam³,Bembi Bruno⁴,Bujanover Yoram¹

Affiliation:

1. Department of Pediatrics, Dana Children's Hospital

2. Laboratory for Electron Microscopy, Tel-Aviv Medical Center (Ichilov) Tel-Aviv, Israel

3. Department of Pathology, Tel-Aviv Medical Center (Ichilov) Tel-Aviv, Israel

4. Children's Hospital "Burlo Garofolo" Trieste, Italy

Publisher

SAGE Publications

Subject

Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/000992289403301010

Reference14 articles.

1. The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae.

2. THE CEREBRAL DEFECT IN TAY-SACHS DISEASE AND NIEMANN-PICK DISEASE

3. Spance MW, Callahan JW Sphingomyelin-cholesterol lipidoses: The Niemann-Pick group of diseases . In: Scriver CR, Beudet AI, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. 6th ed. New York, NY : McGraw-Hill Inc; 1989: 1655-1676.

Cited by 7 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. Proteomic Analysis of Niemann-Pick Type C Hepatocytes Reveals Potential Therapeutic Targets for Liver Damage;Cells;2021-08-21

2. Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann–Pick Disease Type C1;International Journal of Molecular Sciences;2019-09-06

3. Niemann-Pick Type C2 Protein Regulates Free Cholesterol Accumulation and Influences Hepatic Stellate Cell Proliferation and Mitochondrial Respiration Function;International Journal of Molecular Sciences;2018-06-05

4. Recovery from liver disease in a Niemann-Pick type C mouse model;Journal of Lipid Research;2010-08

5. Mechanisms and consequences of impaired lipid trafficking in Niemann–Pick type C1-deficient mammalian cells;Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids;2009-07