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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Disease and IDUA[original query]
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.
Genetics in medicine : official journal of the American College of Medical Genetics 2003 1 4 (6): 420-6.
Li Peining, Wood Tim, Thompson Jerry
Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.
Clinica chimica acta; international journal of clinical chemistry 2017 8 474 88-95.
Yassaee Vahid Reza, Hashemi-Gorji Feyzollah, Miryounesi Mohammad, Rezayi Alireza, Ravesh Zeinab, Yassaee Fakhrolmolouk, Salehpour Shad
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.
Diagnostic pathology 2018 5 13 (1): 35.
Chkioua Latifa, Boudabous Hela, Jaballi Ibtissem, Grissa Oussama, Turkia Hadhami Ben, Tebib Neji, Laradi Sandri
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Clinical genetics 2019 6 96 (4): 281-289.
Clarke Lorne A, Giugliani Roberto, Guffon Nathalie, Jones Simon A, Keenan Hillary A, Munoz-Rojas Maria V, Okuyama Torayuki, Viskochil David, Whitley Chester B, Wijburg Frits A, Muenzer Jose
Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I.
Life (Basel, Switzerland) 2021 11 11 (11): .
Can Ngoc Thi Bich, Tran Dien Minh, Bui Thao Phuong, Nguyen Khanh Ngoc, Nguyen Hoang Huy, Nguyen Tung Van, Hwu Wuh-Liang, Tomatsu Shunji, Vu Dung C
Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.
American journal of medical genetics. Part A 2024 11 e63940.
Lauren O Grady, Emilie S Zoltick, Hana Zouk, Wei He, Emma Perez, Lorne Clarke, Jessica Gold, Alanna Strong, Inderneel Sahai, Julie Yeo, Robert C Green, Amel Karaa, Nina B Go
Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa.
BMC genomics 2024 10 25 (1): 948.
Latifa Chkioua, Houda El Fissi, Yessine Amri, Chayma Sahli, Fadoua Bouzid, Hela Boudabous, Neji Tbib, Salima Ferchichi, Taieb Massoud, Najat Alif, Sandrine Laradi, Hassen Ben Abdenne
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