Results 111 to 120 of about 1,603 (150)

Conversion of GDP-mannose into various GDP-deoxyhexoses in Gram-negative bacteria [PDF]

, 2003
Mäki, Minna
core  

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 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

Exploring the Potential of Scales to Assess Different Types of Ataxia: Meta-review. [PDF]

Cerebellum
Racero-Ríos S, Romero-Galisteo RP, González-Sánchez M.   +2 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

Endocrine system disturbances in children with inherited metabolic diseases: a narrative review. [PDF]

Front Endocrinol (Lausanne)
Tagi VM, Fiori L, Montanari C, Tonduti D, Ferrario M, Gambino M, Greco IP, Cecchini A, Calcaterra V, Zuccotti G, Verduci E.   +10 more
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

An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA. [PDF]

Orphanet J Rare Dis
Vuillaumier-Barrot S, Dupré T, Andriantsihoarana T, Desportes V, Cheillan D, Moore SEH, Chantret I.   +6 more
europepmc   +1 more source