Natural history of alpha mannosidosis a longitudinal study-Reference-Cited by-同舟云学术

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Natural history of alpha mannosidosis a longitudinal study

Published:2013 Issue:1 Volume:8 Page:88
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Beck Michael,Olsen Klaus J,Wraith James E,Zeman Jiri,Michalski Jean-Claude,Saftig Paul,Fogh Jens,Malm Dag

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Reference21 articles.

1. Mannosidosis: Clinical, Morphologic, Immunologic, and Biochemical Studies

2. A New Variant of Mannosidosis with Increased Residual Enzymatic Activity and Mild Clinical Manifestation

3. Alpha-mannosidosis

4. Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations

5. Prevalence of Lysosomal Storage Disorders

Cited by 54 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. Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis;Frontiers in Genetics;2024-08-30

2. Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study;Molecular Genetics and Metabolism;2024-08

3. Diagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare disease;Molecular Genetics and Metabolism;2024-05

4. Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study;European Journal of Medical Genetics;2024-04

5. Levodopa‐Responsive Isolated Generalized Dystonia in a Patient with Alpha‐Mannosidosis Due to a Novel Homozygous MAN2B1 Missense Variant–A Novel Association;Movement Disorders Clinical Practice;2024-01-20

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