Rare Diseases
Records 1 - 6 (of 6 Records) |
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Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India. Goyal Manisha et al. Annals of Indian Academy of Neurology 2022 24(5) 686-692 |
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome B Gentner et al, NEJM, November 18, 2021 |
Newborn screening of mucopolysaccharidoses: past, present, and future. Arunkumar Nivethitha et al. Journal of human genetics 2020 Apr |
CLINGEN Actionability Report for Mucopolysaccharidosis type I-IDUA ClinGen Actionability Working Group |
Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison. Eisengart Julie B et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar |
Parents' experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS). Somanadhan S et al. Orphanet journal of rare diseases 2016 11(1) 138 |