The Battlefield of Rare Diseases: Where Uncommon Insights Are Common-Reference-Cited by-同舟云学术

The Battlefield of Rare Diseases: Where Uncommon Insights Are Common

Published:2012-10-03 Issue:154 Volume:4 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Gahl William A.¹

Affiliation:

1. William A. Gahl is Clinical Director of the National Human Genome Research Institute and Director of the Undiagnosed Diseases Program at the National Institutes of Health, Bethesda, MD 20892, USA.

Abstract

The study of rare diseases reveals important insights about normal physiology and the pathogenesis of common disorders, pointing the way to new therapeutic options.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference5 articles.

1. Natural History of Alkaptonuria

2. Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism

3. Improved Renal Function in Children with Cystinosis Treated with Cysteamine

4. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

5. NT5EMutations and Arterial Calcifications

Cited by 21 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. Pandemic preparedness needs for children with rare diseases and their families: A perspective of COVID-19 experiences;Rare;2024

2. Identification of a targetable ST2-expressing fibroblast subset driving Peutz-Jeghers syndrome polyposis;2023-11-30

3. Lysosomal Diseases;Encyclopedia of Cell Biology;2023

4. Childhood rare diseases and the UN convention on the rights of the child;Orphanet Journal of Rare Diseases;2021-12

5. A Rare Kidney Disease To Cure Them All? Towards Mechanism-Based Therapies for Proteinopathies;Trends in Molecular Medicine;2021-04