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Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations. [PDF]
Diabetes Metab Syndr ObesSabi SH +4 more
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Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials. [PDF]
NeurotherapeuticsD'Silva A +12 more
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American Journal of Medical Genetics, Part A, 2020
AbstractPhosphomannomutase 2 deficiency (PMM2‐CDG) is an autosomal recessive congenital disorder of glycosylation, characterized by multisystem phenotypes, mostly including neurological involvement. In Turkey, due to high rates of consanguinity, many patients with autosomal recessive disorders have homozygous variants and these diseases are more common,
H Serap Sivri +2 more
exaly +3 more sources
AbstractPhosphomannomutase 2 deficiency (PMM2‐CDG) is an autosomal recessive congenital disorder of glycosylation, characterized by multisystem phenotypes, mostly including neurological involvement. In Turkey, due to high rates of consanguinity, many patients with autosomal recessive disorders have homozygous variants and these diseases are more common,
H Serap Sivri +2 more
exaly +3 more sources
Molecular Genetics and Metabolism, 2012
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.
Viktor Kozich +2 more
exaly +5 more sources
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.
Viktor Kozich +2 more
exaly +5 more sources
Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency
2021Portuguese Journal of Pediatrics, Vol. 52 No. 4 (2021)
Pinto Silva, Catarina +3 more
openaire +1 more source
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG)
Journal of Inherited Metabolic Disease, 2011Deficiency of phosphomannomutase (PMM2, MIM#601785) is the most common congenital disorder of glycosylation. Herein we report the genetic analysis of 22 Spanish PMM2 deficient patients and the functional analysis of 14 nucleotide changes in a prokaryotic expression system in order to elucidate their molecular pathogenesis.
Vega AI +8 more
openaire +4 more sources
Brain and Development, 1999
Carbohydrate-deficient glycoprotein syndrome type I (CDG1) is an autosomal recessive disorder characterized by severe nervous system involvement and a carbohydrate moiety deficiency in N-linked glycoproteins. Clinical symptoms are psychomotor retardation, stroke-like episodes or hemorrhagic episodes, hepatic dysfunction, polyneuropathy, and cerebellar ...
K, Mizugishi +5 more
openaire +2 more sources
Carbohydrate-deficient glycoprotein syndrome type I (CDG1) is an autosomal recessive disorder characterized by severe nervous system involvement and a carbohydrate moiety deficiency in N-linked glycoproteins. Clinical symptoms are psychomotor retardation, stroke-like episodes or hemorrhagic episodes, hepatic dysfunction, polyneuropathy, and cerebellar ...
K, Mizugishi +5 more
openaire +2 more sources
Clinical Genetics, 1999
Carbohydrate‐deficient glycoprotein syndrome type 1 (CDG1) (MIM: 212065) is an autosomal recessive disorder with psychomotor retardation, strokelike episodes, ataxia, and olivopontocerebellar atrophy (OPCA) of neonatal onset. Recently, DNA substitutions in a gene for phosphomannomutase 2 (PMM2), mapped to 16p13, were identified in patients with CDG1 ...
I, Kondo +7 more
openaire +2 more sources
Carbohydrate‐deficient glycoprotein syndrome type 1 (CDG1) (MIM: 212065) is an autosomal recessive disorder with psychomotor retardation, strokelike episodes, ataxia, and olivopontocerebellar atrophy (OPCA) of neonatal onset. Recently, DNA substitutions in a gene for phosphomannomutase 2 (PMM2), mapped to 16p13, were identified in patients with CDG1 ...
I, Kondo +7 more
openaire +2 more sources
2021
Phosphomannomutase 2 deficiency congenital disorder of glycosylation (PMM2-CDG), the most prevalent N-glycosylation disease, is a multi-organ disease with marked clinical heterogeneity. Severe liver involvement is not a common find in these patients.
Pinto Silva, Catarina +3 more
openaire +1 more source
Phosphomannomutase 2 deficiency congenital disorder of glycosylation (PMM2-CDG), the most prevalent N-glycosylation disease, is a multi-organ disease with marked clinical heterogeneity. Severe liver involvement is not a common find in these patients.
Pinto Silva, Catarina +3 more
openaire +1 more source