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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 81"
Page 1
Clinical features of Danon disease and insights gained from LAMP-2 deficiency models.
Zhai Y, Miao J, Peng Y, Wang Y, Dong J, Zhao X. Zhai Y, et al. Trends Cardiovasc Med. 2023 Feb;33(2):81-89. doi: 10.1016/j.tcm.2021.10.012. Epub 2021 Nov 2. Trends Cardiovasc Med. 2023. PMID: 34737089 Review.
Danon disease (DD) is an X-linked multisystem disorder with clinical features characterized by the triad of hypertrophic cardiomyopathy, skeletal muscle weakness, and mental retardation. ...Among them, gene therapies anticipate inaugurate a class of symptom c …
Danon disease (DD) is an X-linked multisystem disorder with clinical features characterized by the triad of hypertrophi …
Rett syndrome: the complex nature of a monogenic disease.
Renieri A, Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F. Renieri A, et al. J Mol Med (Berl). 2003 Jun;81(6):346-54. doi: 10.1007/s00109-003-0444-9. Epub 2003 May 16. J Mol Med (Berl). 2003. PMID: 12750821 Review.
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively girls. It is currently considered a monogenic X-linked dominant disorder due to mutations in MECP2 gene, encoding the methyl-CpG binding protein 2. ...It is possible that MeCP2 …
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively girls. It is currently considered a monogenic X …
Methodology and software to detect viral integration site hot-spots.
Presson AP, Kim N, Xiaofei Y, Chen IS, Kim S. Presson AP, et al. BMC Bioinformatics. 2011 Sep 14;12:367. doi: 10.1186/1471-2105-12-367. BMC Bioinformatics. 2011. PMID: 21914224 Free PMC article.
The novel hot-spot methods are compared with a conventional CIS method using simulated data sets and data sets from five published human studies, including the X-linked ALD (adrenoleukodystrophy), CGD (chronic granulomatous disease) and SCID-X1 (X-linked …
The novel hot-spot methods are compared with a conventional CIS method using simulated data sets and data sets from five published human stu …
Dodecyl creatine ester therapy: from promise to reality.
Mabondzo A, van de Kamp J, Mercimek-Andrews S. Mabondzo A, et al. Cell Mol Life Sci. 2024 Apr 17;81(1):186. doi: 10.1007/s00018-024-05218-y. Cell Mol Life Sci. 2024. PMID: 38632116 Free PMC article.
Pathogenic variants in SLC6A8, the gene which encodes creatine transporter SLC6A8, prevent creatine uptake in the brain and result in a variable degree of intellectual disability, behavioral disorders (e.g., autism spectrum disorder), epilepsy, and severe speech and …
Pathogenic variants in SLC6A8, the gene which encodes creatine transporter SLC6A8, prevent creatine uptake in the brain and result in a vari …
A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy.
Ahmed MA, Kartha RV, Brundage RC, Cloyd J, Basu C, Carlin BP, Jones RO, Moser AB, Fatemi A, Raymond GV. Ahmed MA, et al. Br J Clin Pharmacol. 2016 Jun;81(6):1058-66. doi: 10.1111/bcp.12897. Epub 2016 Apr 3. Br J Clin Pharmacol. 2016. PMID: 26836218 Free PMC article. Clinical Trial.
AIMS: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder, most commonly affecting boys, associated with increased very long chain fatty acids (C26:0) in all tissues, causing cerebral demyelination and adrenocortical insufficiency. ...METHODS: Non-linear …
AIMS: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder, most commonly affecting boys, associated with increased …
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II.
Schulze-Frenking G, Jones SA, Roberts J, Beck M, Wraith JE. Schulze-Frenking G, et al. J Inherit Metab Dis. 2011 Feb;34(1):203-8. doi: 10.1007/s10545-010-9215-2. Epub 2010 Oct 27. J Inherit Metab Dis. 2011. PMID: 20978944 Free PMC article.
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase. ...
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by defici …
Arts syndrome is caused by loss-of-function mutations in PRPS1.
de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. de Brouwer AP, et al. Am J Hum Genet. 2007 Sep;81(3):507-18. doi: 10.1086/520706. Epub 2007 Aug 3. Am J Hum Genet. 2007. PMID: 17701896 Free PMC article.
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. ...To replenish low levels of purines, treatment with S-adenosylmethionine theoretically could …
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor develo …