Results 141 to 150 of about 6,449 (175)

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

Physical Education-Based Stretching During Warm-Up, Cool-Down, or Both on Back-Saver Sit-and-Reach Scores in Schoolchildren. [PDF]

J Funct Morphol Kinesiol
Merino-Marban R, López-Fernandez I, Mayorga-Vega D.   +2 more
europepmc   +1 more source

XYLT1-CDG [PDF]

, 2020
openaire   +1 more source

Resolving Hexose-Phosphates by LC-MS Leads to New Insights in PGM1-CDG Pathophysiology. [PDF]

ACS Omega
Driesen K, De Craemer S, Morava E, Cassiman D, Witters P, Ghesquière B.   +5 more
europepmc   +1 more source

DDOST-CDG [PDF]

, 2020
openaire   +1 more source

CAD-CDG [PDF]

, 2020
openaire   +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

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

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