Results 111 to 120 of about 24,745,339 (132)

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

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, Katerina Vesela, Nina Ondrušková   +2 more
exaly   +5 more sources

Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency) [PDF]

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 1999
The carbohydrate-deficient glycoprotein or CDG syndromes (OMIM 212065) are a recently delineated group of genetic, multisystem diseases with variable dysmorphic features.
Gert Matthijs, Emile van Schaftingen, Jaak Jaeken   +2 more
exaly   +2 more sources

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I [PDF]

FEBS Letters, 1995
Carbohydrate-deficient glycoprotein (CDG) syndromes are genetic multisystemic disorders characterized by defective N-glycosylation of serum and cellular proteins.
Emile van Schaftingen, Jaak Jaeken
exaly   +2 more sources

Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency

2021
Portuguese Journal of Pediatrics, Vol. 52 No. 4 (2021)
Pinto Silva, Catarina, Almeida, Joana, Diogo, Luísa, Nobre, Susana   +3 more
openaire   +1 more source

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG)

Journal of Inherited Metabolic Disease, 2011
Deficiency 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, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B   +8 more
openaire   +4 more sources

Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate‐deficient glycoprotein syndrome type 1

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, K, Mizugishi, Y, Yoneda, T, Hashimoto, K, Kuwajima, I, Yuasa, K, Shigemoto, Y, Kuroda   +7 more
openaire   +2 more sources

Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I

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, K, Yamanaka, K, Kuwajima, I, Yuasa, K, Shigemoto, I, Kondo   +5 more
openaire   +2 more sources

Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency: Date of submission: 24-11-2020 | Date of acceptance: 06-05-2021 | Published: 03-10-2021

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, Almeida, Joana, Diogo, Luísa, Nobre, Susana   +3 more
openaire   +1 more source

Towards a therapy for phosphomannomutase 2 deficiency: the prodrug approach for the delivery of alpha-glucose-1,6-bisphosphate

2019
Phosphomannomutase2 deficit, or PMM2-CDG, is the most common congenital disorder of glycosylation affecting over 1,000 patients globally and it is still without a cure. The majority of the mutations causing the disease destabilize PMM2, which, under physiological conditions, catalyses the conversion of mannose-6-phosphate into mannose- 1-phosphate ...
Sodano F. 1, Rolando B. 1, Rimoli M.G. 2, Cubellis M.V. 3, 4, Monticelli M. 4, Allocca M. 3, 5, Liguori L. 3, 5, Andreotti G. 3, Lazzarato L. 1   +11 more
openaire   +3 more sources

ALDOSE REDUCTASE INHIBITORS FOR TREATMENT OF PHOSPHOMANNOMUTASE 2 DEFICIENCY

2021
PERFETTI RICCARDO, SHENDELMAN SHOSHANA
openaire   +2 more sources