Results 141 to 150 of about 4,129 (176)

Congenital disorders of glycosylation type 1A associated with cerebral hemorrhagic infarction: illustrative case. [PDF]

open access: yesJ Neurosurg Case Lessons
Nomura Y   +6 more
europepmc   +1 more source

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   +8 more
openaire   +4 more sources

Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency

2021
Portuguese Journal of Pediatrics, Vol. 52 No. 4 (2021)
Pinto Silva, Catarina   +3 more
openaire   +1 more source

Home - About - Disclaimer - Privacy