Hurler
What's New
Last Posted: Jan 14, 2022
- 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 - Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
Hong Xinying et al. Molecular genetics and metabolism 2018 Mar - Open issues in Mucopolysaccharidosis type I-Hurler.
Parini Rossella et al. Orphanet journal of rare diseases 2017 Jun 12(1) 112 - 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 - Hurler syndrome
From NCATS Genetic and Rare Diseases Information Center - Hurler–Scheie syndrome
From NCATS Genetic and Rare Diseases Information Center
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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
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