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2023 | 1 |
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Cognitive and adaptive behaviors associated with disease severity and genotype in patients with mucopolysaccharidosis II.
Mol Genet Metab. 2023 Nov;140(3):107652. doi: 10.1016/j.ymgme.2023.107652. Epub 2023 Jul 13.
Mol Genet Metab. 2023.
PMID: 37506513
Free article.
BACKGROUND: Mucopolysaccharidosis II (MPS II) is a rare, X-linked lysosomal storage disease caused by pathogenic variants of the iduronate-2-sulfatase gene (IDS) and is characterized by a highly variable disease spectrum. ...
BACKGROUND: Mucopolysaccharidosis II (MPS II) is a rare, X-linked lysosomal storage disease caused by pathogenic variants of t …
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS.
DeBrosse SD, et al.
Mol Genet Metab. 2012 Nov;107(3):394-402. doi: 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7.
Mol Genet Metab. 2012.
PMID: 23021068
Causes of death included severe lactic acidosis, respiratory failure, and infection. In subjects surviving past 6 months, a broad range of intellectual outcomes was observed. Of 42 subjects whose intellectual abilities were professionally evaluated, 19% had normal o …
Causes of death included severe lactic acidosis, respiratory failure, and infection. In subjects surviving past 6 months, a broad range of …
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