Rare Diseases

Current bibliography for experts

"Mucopolysaccharidosis Iva" search results...

MPS

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

2021-08-13

Mutation updates are essential for the correct molecular diagnoses, genetic counseling, prenatal and preimplantation diagnosis, and disease management.

MPS

A Novel Missense Mutation (c.965C>T, p.Ala322Val) in the GALNS Gene: A Severe MPS IVA Case

2025-02-01

A newly identified c.965C>T (p.Ala322Val) missense mutation in the GALNS gene has been associated with the severe form of Morquio syndrome (MPS IVA); the diagnosis was confirmed in a 3-year-old patient with skeletal abnormalities through whole exome sequencing, and early enzyme replacement therapy has been recommended to slow disease progression.

MPS

Delayed diagnosis of mild mucopolysaccharidosis type IVA

2024-06-03

This study investigates the clinical and molecular characteristics of 13 patients with mild Mucopolysaccharidosis type IVA (MPS IVA) to address the issue of delayed diagnosis.

News and Events

ESHG 2026

ESHG 2026, European Conference on Human Genetics, will be held in Gothenburg, Sweden.

18th International Congress on Metabolic Diseases and Nutrition

18th International Congress on Metabolic Diseases and Nutrition will be held between April 27 and May 1, 2026.

I-PAS Academy 2026

İ-PAS Academy 2026 will be held between October 1–4, 2026, at the Hilton Dalaman Sarıgerme Resort & Spa.

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Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...