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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 103"
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Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
Jurecka A, Krumina Z, Żuber Z, Różdżyńska-Świątkowska A, Kłoska A, Czartoryska B, Tylki-Szymańska A. Jurecka A, et al. Am J Med Genet A. 2012 Feb;158A(2):450-4. doi: 10.1002/ajmg.a.34415. Epub 2012 Jan 13. Am J Med Genet A. 2012. PMID: 22246721
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked lysosomal storage disease caused by a deficiency of iduronate-2-sulfatase (IDS). ...Molecular studies showed that case 1 has a heterozygous mutation c.1568A > G (p.Y523C) associated with almos …
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked lysosomal storage disease caused by a deficiency of idu …
Menkes disease after copper histidine replacement therapy: case report.
George DH, Casey RE. George DH, et al. Pediatr Dev Pathol. 2001 May-Jun;4(3):281-8. doi: 10.1007/s100240010142. Pediatr Dev Pathol. 2001. PMID: 11370266
Menkes disease (MD) is an X-linked recessive disorder of copper metabolism, characterized in its untreated state by progressive disorders of multiple systems, especially the central nervous system (CNS) and connective tissue, and death by 3 years of age. Recently, t …
Menkes disease (MD) is an X-linked recessive disorder of copper metabolism, characterized in its untreated state by progressiv …
A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene.
Lee EH, Ahn MS, Hwang JS, Ryu KH, Kim SJ, Kim SH. Lee EH, et al. J Korean Med Sci. 2006 Oct;21(5):800-4. doi: 10.3346/jkms.2006.21.5.800. J Korean Med Sci. 2006. PMID: 17043409 Free PMC article.
Pyruvate dehydrogenase complex (PDHC) deficiency is mostly due to mutations in the X-linked E1alpha subunit gene (PDHA1). Some of the patients with PDHC deficiency showed clinical improvements with thiamine treatment. ...Thiamine treatment resulted in reducti …
Pyruvate dehydrogenase complex (PDHC) deficiency is mostly due to mutations in the X-linked E1alpha subunit gene (PDHA1). Some …