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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 49"
Page 1
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA. da Silva EM, et al. Cochrane Database Syst Rev. 2016 Feb 5;2(2):CD008185. doi: 10.1002/14651858.CD008185.pub4. Cochrane Database Syst Rev. 2016. PMID: 26845288 Free PMC article. Review.
BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. ...AUTHORS' CONCLUSIONS: The curren …
BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the …
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA. da Silva EM, et al. Cochrane Database Syst Rev. 2014 Jan 8;(1):CD008185. doi: 10.1002/14651858.CD008185.pub3. Cochrane Database Syst Rev. 2014. PMID: 24399699 Updated. Review.
BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. ...AUTHORS' CONCLUSIONS: The curren …
BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the …
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA. da Silva EM, et al. Cochrane Database Syst Rev. 2011 Nov 9;(11):CD008185. doi: 10.1002/14651858.CD008185.pub2. Cochrane Database Syst Rev. 2011. PMID: 22071845 Updated. Review.
BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. ...AUTHORS' CONCLUSIONS: The curren …
BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the …
Clinical expression of Menkes disease in females with normal karyotype.
Møller LB, Lenartowicz M, Zabot MT, Josiane A, Burglen L, Bennett C, Riconda D, Fisher R, Janssens S, Mohammed S, Ausems M, Tümer Z, Horn N, Jensen TG. Møller LB, et al. Orphanet J Rare Dis. 2012 Jan 22;7:6. doi: 10.1186/1750-1172-7-6. Orphanet J Rare Dis. 2012. PMID: 22264391 Free PMC article.
BACKGROUND: Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. ...While a skewed inactivation of the X-chromosome which harbours the mutation was observed in 94% of …
BACKGROUND: Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A …
MeCP2 is involved in random mono-allelic expression for a subset of human autosomal genes.
Brousseau M, Nectoux J, Saintpierre B, Lebrun N, Cagnard N, Izac B, Olivier E, Letourneur F, Bienvenu T. Brousseau M, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Jun 1;1866(6):165730. doi: 10.1016/j.bbadis.2020.165730. Epub 2020 Feb 15. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32070770 Free article.
Widespread random monoallelic gene expression (RMAE) effects influence about 10% of human genes. ...Our data clearly demonstrated that MeCP2 deficiency does not affect significantly allelic gene expression of X-linked genes, imprinted genes …
Widespread random monoallelic gene expression (RMAE) effects influence about 10% of human genes. ...Our data clearly demonstra …
Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.
Wexler ID, Hemalatha SG, McConnell J, Buist NR, Dahl HH, Berry SA, Cederbaum SD, Patel MS, Kerr DS. Wexler ID, et al. Neurology. 1997 Dec;49(6):1655-61. doi: 10.1212/wnl.49.6.1655. Neurology. 1997. PMID: 9409363
PDC deficiency is a clinically heterogeneous disorder, with most mutations located in the coding region of the X-linked alpha subunit of the first catalytic component, pyruvate dehydrogenase (E1). ...All seven patients received ketogenic diets with varying degrees o …
PDC deficiency is a clinically heterogeneous disorder, with most mutations located in the coding region of the X-linked alpha …
Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study.
Mahmood A, Raymond GV, Dubey P, Peters C, Moser HW. Mahmood A, et al. Lancet Neurol. 2007 Aug;6(8):687-92. doi: 10.1016/S1474-4422(07)70177-1. Lancet Neurol. 2007. PMID: 17618834 Clinical Trial.
METHODS: Retrospective survival analyses were done on 283 CCALD patients identified at the Kennedy Krieger Institute who had not received HCT, focusing on a 30-member early stage cerebral subgroup whose neurological disability and MRI severity scores matched those in a 19- …
METHODS: Retrospective survival analyses were done on 283 CCALD patients identified at the Kennedy Krieger Institute who had not received HC …
Urate kinetics in hypoxanthine-guanine phosphoribosyltransferase deficiency: their significance for the understanding of gout.
Emmerson BT, Gordon RB, Johnson LA. Emmerson BT, et al. Q J Med. 1976 Jan;45(177):49-61. Q J Med. 1976. PMID: 769040 Clinical Trial.
Urate production (miscible urate pool and turnover, daily production, glycine incorporation into urate) and urate excretion (24 hour urinary urate excretion on a purine free diet, renal clearances of urate and creatinine, per cent renal excretion of labelled urate, extra-renal el …
Urate production (miscible urate pool and turnover, daily production, glycine incorporation into urate) and urate excretion (24 hour urinary …
Adrenomyeloneuropathy: a rare cause of Addison's disease?
Hochstenbag MM, Peters FP, Anten HW, Moers AM. Hochstenbag MM, et al. Neth J Med. 1996 Aug;49(2):77-81. doi: 10.1016/0300-2977(96)00017-4. Neth J Med. 1996. PMID: 8824109
He developed a urinary tract infection and an Addisonian crisis. This was due to adrenomyeloneuropathy, a form of X-linked adrenoleukodystrophy and characterized by accumulation of very-long-chain fatty acids in the adrenal cortex and nervous tissues....
He developed a urinary tract infection and an Addisonian crisis. This was due to adrenomyeloneuropathy, a form of X-linked adr …