Results 121 to 130 of about 1,603 (150)

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG) (vol 11, e0158863, 2015)

, 2016
García-López R, de la Morena-Barrio ME, Alsina L, Pérez-Dueñas B, Jaeken J, Serrano M, Casado M, Hernández-Caselles T   +7 more
openaire   +1 more source

Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation. [PDF]

Mol Genet Metab Rep
Zhong D, Huang X, Feng T, Zeng J, Gu S, Ning F, Yang Y, Zhu J, Wang Y, Chen R, Ma G.   +10 more
europepmc   +1 more source

Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies. [PDF]

Arch Iran Med
Alagha P, Akhtarkhavari T, Shokouhian E, Ghodratpour F, Arzhangi S, Najmabadi H, Kahrizi K.   +6 more
europepmc   +1 more source

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

Unveiling key genetic loci and candidate genes for brown spot disease resistance in rice based on QTL analysis. [PDF]

Sci Rep
Zhao DD, Chung H, Farooq M, Kim NG, Choi SY, Kim S, Kim SM, Lee JH, Du XX, Kim KM.   +9 more
europepmc   +1 more source

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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   +6 more sources