Results 71 to 80 of about 774 (106)

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

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

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

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

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

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

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

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