Results 81 to 90 of about 763 (113)

Metabolic Liver Diseases Presenting as Pediatric Onset Hypoglycemia: A Hepatologist's Primer. [PDF]

J Clin Exp Hepatol
Verma S, Sood V, Lal BB, Khanna R, Alam S.   +4 more
europepmc   +1 more source

Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials. [PDF]

Neurotherapeutics
D'Silva A, Barnes J, Djafar J, Bhattacharya K, Yan J, Mohammad S, Bandodkar S, Johnson A, Tchan M, Miteff C, Elvidge KL, Dale RC, Farrar M.   +12 more
europepmc   +1 more source

Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations. [PDF]

Diabetes Metab Syndr Obes
Sabi SH, Alzreqat RK, Almaaytah AM, Masaadeh MM, Abualhaijaa AK.   +4 more
europepmc   +1 more source

Mass Spectrometry as a First-Line Diagnostic Aid for Congenital Disorders of Glycosylation. [PDF]

Mass Spectrom (Tokyo)
Wada Y.
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

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

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.
Honzik, Tomas, Magner, Martin, Krijt, Jakub, Sokolova, Jitka, Vugrek, Oliver, Belužić, Robert, Barić, Ivo, Hansikova, Hana, Elleder, Milan, Vesela, Katerina, Bauerova, Lenka, Ondruskova, Nina, Jesina, Pavel, Zeman, Jiri, Kozich, Viktor   +14 more
openaire   +4 more sources

Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe

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,
Yılmaz Yıldız, Mutluay Arslan, Gökalp Çelik, Çiğdem Seher Kasapkara, Serdar Ceylaner, Ali Dursun, Hatice Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı   +8 more
openaire   +2 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