About: Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency

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About: Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1016/j.ymgme.2012.08.014
Description	We report on the seventh known patient with S-adenosylhomocysteine hydrolase (SAHH) deficiency presenting at birth with features resembling phosphomannomutase 2 (PMM2-CDG Ia) deficiency. Plasma methionine and total homocysteine levels were normal at 2 months and increased only after the 8th month of age. SAHH deficiency was confirmed at 4.5 years of age by showing decreased SAHH activity (11% in both erythrocytes and fibroblasts), and compound heterozygosity for a known mutation c.145C > T (p.R49C) and a novel variant c.211G > A (p.G71S) in the AHCY gene. Retrospective analysis of clinical features revealed striking similarities between SAHH deficiency and the PMM2-CDG Ia. We report on the seventh known patient with S-adenosylhomocysteine hydrolase (SAHH) deficiency presenting at birth with features resembling phosphomannomutase 2 (PMM2-CDG Ia) deficiency. Plasma methionine and total homocysteine levels were normal at 2 months and increased only after the 8th month of age. SAHH deficiency was confirmed at 4.5 years of age by showing decreased SAHH activity (11% in both erythrocytes and fibroblasts), and compound heterozygosity for a known mutation c.145C > T (p.R49C) and a novel variant c.211G > A (p.G71S) in the AHCY gene. Retrospective analysis of clinical features revealed striking similarities between SAHH deficiency and the PMM2-CDG Ia. (en)
Title	Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency (en)
skos:prefLabel	Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency (en)
skos:notation	RIV/00064165:_____/12:12313!RIV13-MZ0-00064165
http://linked.open...avai/riv/aktivita	I P Z
http://linked.open...avai/riv/aktivity	I, P(NT12166), Z(MZ0VFN2005)
http://linked.open...iv/cisloPeriodika	3
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Krijt, Jakub Kožich, Viktor Elleder, Milan Zeman, Jiří Bauerová, Lenka Ješina, Pavel Honzík, Tomáš Magner, Martin Veselá, Kateřina Ondrušková, Nina Hansíková, Hana
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Všeobecná fakultní nemocnice v Praze / (nerozlišená součást)
http://linked.open...dnocenehoVysledku	127436
http://linked.open...ai/riv/idVysledku	RIV/00064165:_____/12:12313
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	S-adenosylhomocysteine hydrolase; S-adenosylhomocysteine; S-adenosylmethionine; Phosphomannomutase 2; Congenital disorders of glycosylation (en)
http://linked.open.../riv/klicoveSlovo	Congenital disorders of glycosylation Phosphomannomutase 2 S-adenosylhomocysteine S-adenosylhomocysteine hydrolase S-adenosylmethionine
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[39562E7E7767]
http://linked.open...i/riv/nazevZdroje	Molecular Genetics and Metabolism
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	11 (xsd:int)
http://linked.open...cetTvurcuVysledku	15 (xsd:int)
http://linked.open...vavai/riv/projekt	The study of the bases of congenital disorders of glycosylation
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	107
http://linked.open...iv/tvurceVysledku	Elleder, Milan Kožich, Viktor Krijt, Jakub Honzík, Tomáš Ješina, Pavel Magner, Martin Zeman, Jiří Bauerová, Lenka Veselá, Kateřina Hansíková, Hana Ondrušková, Nina Barič, Ivo Belužič, Robert Sokolová, Jitka Vugrek, Oliver
http://linked.open...ain/vavai/riv/wos	000310720200054
http://linked.open...n/vavai/riv/zamer	Diagnosis and treatment of inherited disorders II
issn	1096-7192
number of pages	3 (xsd:int)

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