Results 101 to 110 of about 24,745,339 (132)

A Review on Cutaneous Manifestations of Cerebrovascular Accident. [PDF]

Indian Dermatol Online J
Gowda SK, Gupta S, Verma P.
europepmc   +1 more source

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG). [PDF]

J Inherit Metab Dis
Weixel T, Adedipe D, Muldoon G, Lam C, Krasnewich D, Thurm A, Wolfe L.   +6 more
europepmc   +1 more source

PMM2 interacts with TRIM28 to recruit E2F4 and promote KIFC3-mediated tumor glycolysis and colorectal cancer progression. [PDF]

Oncogene
Peng Z, Ma B, Song Z, Zhao Y, Yang Y, Liu Y, Li C, Zhang Y.   +7 more
europepmc   +1 more source

Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients. [PDF]

Invest Ophthalmol Vis Sci
Zaslavsky K, Tumber A, Millar E, Boginskaia O, MacDonald H, Klatt R, Ali A, Heon E, Vincent A.   +8 more
europepmc   +1 more source

A discovery protein panel for brain predicted age discordance using MRI in neurologically healthy individuals. [PDF]

Front Cell Dev Biol
Gill JM, Lim A, Esopenko C, Yun S, Yun J, Dark HE, Alice J, Kenney K, Hentig J, Pugh MJ, Walker WC, Cifu D, de Souza NL, Dennis EL, Wilde EA.   +14 more
europepmc   +1 more source

Glycosylation disorders in pediatric epilepsy: pathophysiology, imaging and precision therapy. [PDF]

Front Neurol
Fan L, Shen Y, Wang J, Gan J.
europepmc   +1 more source

Identification of Monogenic Causes of Arterial Ischemic Stroke in Children with Arteriopathies by Next-Generation Sequencing. [PDF]

Int J Mol Sci
Balcerzyk-Matić A, Kopyta I, Kruszniewska-Rajs C, Niemiec P, Gola J.   +4 more
europepmc   +1 more source

Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience. [PDF]

J Clin Med
Deudero A, Lasheras E, Ventura R, Montserrat-Carbonell C, Milisenda JC, Juliá-Palacios N, Matas A, Forga-Visa MT, López-Galera RM, García-Villoria J, Placeres M, Pané A, Garrabou G, Ribes A, Cardellach F, Moreno-Lozano PJ, Garcia-Cazorla À, Campistol J, Iem-Sjd-Hcb Consortia.   +18 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,
H Serap Sivri, Yilmaz Yıldız, Ali Dursun   +2 more
exaly   +5 more sources