Results 151 to 160 of about 3,636 (221)

Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement [PDF]

core   +1 more source

The Potentials of Glycomics in Biomarker Discovery [PDF]

, 2008

core   +1 more source

SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights. [PDF]

Int J Mol Sci
Risso B, Riva A, Volpedo G, Conti V, di San Carlo CT, Zara F, Striano P, Falace A.   +7 more
europepmc   +1 more source

The Importance of N- and O-Glycosylation of Brain Cell Surface Glycoproteins. [PDF]

Glycobiology
Noel M, Zürcher YM, Tulin EKC, Cummings RD.   +3 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

PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes. [PDF]

J Transl Med
Radenkovic S, Preston G, Budhraja R, Muffels I, Ligezka A, Staff NP, Hrstka R, Balakrishnan B, Shah R, Verberkmoes S, Shammas I, Bosnyak I, Stiers KM, Lai K, Beamer LJ, Pandey A, Morava E, Kozicz T.   +17 more
europepmc   +1 more source

Novel <i>SSR4</i> gene splice variant leads to congenital disorder of glycosylation, type Iy. [PDF]

Front Pediatr
Li N, Chen C.
europepmc   +1 more source

Atrial septal defect closure as second-line therapy in refractory heart failure: a successful case report in a 6-year-old child with phosphoglucomutase 1 deficiency (PGM1-CDG). [PDF]

Eur Heart J Case Rep
Mimoun S, Baruteau AE, Lefort B, Grunenwald C, Oscar W.   +4 more
europepmc   +1 more source

Congenital Disorder of Glycosylation Following ATP6AP1 Deficiency With Normal Liver Function: A Case Report. [PDF]

Clin Case Rep
Jabbaripour Sarmadian A, Abdinia B, Seyed Toutounchi K, Saberi M, Eskandarzadeh S.   +4 more
europepmc   +1 more source

Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases. [PDF]

Mol Genet Metab
Altassan R, Aldhahri SK, Macdonald G, Shah R, Morava E.   +4 more
europepmc   +1 more source