Mucopolysaccharidosis Type Iva
What's New
Last Posted: Mar 08, 2023
- Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families.
Xie Jie, et al. Gene 2018 0 261-269 - Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.
Pachajoa Harry, et al. American journal of medical genetics. Part C, Seminars in medical genetics 2021 0 (3) 388-395 - Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
Yi Mengni, et al. Journal of inherited metabolic disease 2022 0 (3) 593-604 - Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Kim Man Jin et al. Annals of laboratory medicine 2022 43(3) 280-289 - Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.
Chkioua Latifa, et al. Diagnostic pathology 2016 0 (1) 51 - Mucopolysaccharidosis type IVA
From NCATS Genetic and Rare Diseases Information Center
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Content source: