"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." . "Je\u0161ina, Pavel" . . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" . . . "3" . . "Krijt, Jakub" . "Elleder, Milan" . "Ko\u017Eich, Viktor" . "Bauerov\u00E1, Lenka" . "Molecular Genetics and Metabolism" . . . "http://dx.doi.org/10.1016/j.ymgme.2012.08.014" . "[39562E7E7767]" . "Belu\u017Ei\u010D, Robert" . "RIV/00064165:_____/12:12313" . . . "1096-7192" . . . . "3"^^ . . . "Vesel\u00E1, Kate\u0159ina" . "Magner, Martin" . . . . "Hans\u00EDkov\u00E1, Hana" . "Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency" . "S-adenosylhomocysteine hydrolase; S-adenosylhomocysteine; S-adenosylmethionine; Phosphomannomutase 2; Congenital disorders of glycosylation"@en . . . . . "Vugrek, Oliver" . . . "Zeman, Ji\u0159\u00ED" . "Sokolov\u00E1, Jitka" . "Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency"@en . . "Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency"@en . . "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 . "I, P(NT12166), Z(MZ0VFN2005)" . . "000310720200054" . . . "RIV/00064165:_____/12:12313!RIV13-MZ0-00064165" . "127436" . "Ondru\u0161kov\u00E1, Nina" . "107" . . "Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency" . "Bari\u010D, Ivo" . . . "Honz\u00EDk, Tom\u00E1\u0161" . . "11"^^ . "15"^^ .