| 1 |
A deletion of
IDUA
exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I
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| | Kiterie M. E. Faller, Alison E. Ridyard, Rodrigo Gutierrez-Quintana, Angie Rupp, Celia Kun-Rodrigues, Tatiana Orme, Karen L. Tylee, Heather J. Church, Rita Guerreiro, Jose Bras | | | Journal of Veterinary Internal Medicine. 2020; 34(5): 1813 | | | [Pubmed] [Google Scholar] [DOI] | | | 2 |
Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree |
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| | Belal Azab,Zain Dardas,Mohannad Hamarsheh,Mohammad Alsalem,Zaid Kilani,Farah Kilani,Abdalla Awidi,Hanan Jafar,Sami Amr | | | Molecular Genetics and Metabolism Reports. 2017; 12: 76 | | | [Pubmed] [Google Scholar] [DOI] | | | 3 |
Role of rehabilitation in Hurleręs syndrome |
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| | Sudhir Ramkishore Mishra,Mona Shastri,Jaishree Ramesh | | | Journal of Back and Musculoskeletal Rehabilitation. 2016; : 1 | | | [Pubmed] [Google Scholar] [DOI] | | | 4 |
Short stature with umbilical hernia - Not always due to cretinism: A report of two cases |
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| | SharvilS Gadve, Dipti Sarma, UmaK Saikia | | | Indian Journal of Endocrinology and Metabolism. 2012; 16(3): 453 | | | [Pubmed] [Google Scholar] [DOI] | | | 5 |
La maladie de Hurler: ą propos de 30 cas |
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| | Belaid Imessaoudene,Sihem Hallal,Meriem Amina Ghouali,Arezki Berhoune | | | Revue Francophone des Laboratoires. 2011; 2011(436): 73 | | | [Pubmed] [Google Scholar] [DOI] | |
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