Results 101 to 110 of about 1,603 (150)

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation. [PDF]

JCEM Case Rep
Ødum SF, Grønborg SW, Main KM, Klose M.   +3 more
europepmc   +1 more source

Faculty Opinions recommendation of Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2019
openaire   +2 more sources

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes. [PDF]

Front Endocrinol (Lausanne)
Del Medico G, Ferri L, Procopio E, Annibalini G, Barbieri E, Barone R, Guerrini R, Morrone A, Stagi S.   +8 more
europepmc   +1 more source

Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy. [PDF]

BMJ Case Rep
Shwetabh RK, Singh A, Mandal K, Naranje K, Verma A.   +4 more
europepmc   +1 more source

An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies. [PDF]

Front Cardiovasc Med
Montanari C, Tagi VM, Tosi M, Stucchi E, Pisano EM, Raso I, Fini G, Fiori L, Mannarino S, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

Glycosylation in premature ovarian insufficiency: from genetic etiology to precision diagnostics. [PDF]

J Ovarian Res
Feng C, Qi N, Feng R, Liu Y, Yuan X.
europepmc   +1 more source

Uncommon Factors Leading to Nephrotic Syndrome. [PDF]

Biomedicines
Bogdanović L, Babić I, Prvanović M, Mijač D, Mladenović-Marković A, Popović D, Bogdanović J.   +6 more
europepmc   +1 more source

Congenital disorders of glycosylation type 1A associated with cerebral hemorrhagic infarction: illustrative case. [PDF]

J Neurosurg Case Lessons
Nomura Y, Morita T, Ueno K, Watanabe R, Katagai T, Asano K, Saito A.   +6 more
europepmc   +1 more source

Elevated atmospheric CO2-induced reprogramming leads to decreased seed protein and nutritional quality in forest trees. [PDF]

Plant Physiol
Karpinska B, Sanchez-Lucas R, Plackett A, MacKenzie AR, Foyer CH.   +4 more
europepmc   +1 more source

Simultaneous knockout of VITAMIN C DEFECTIVE 2 and 3 exacerbates ascorbate deficiency and light stress sensitivity. [PDF]

J Exp Bot
Tanaka Y, Maruta T, Arima K, Nakayama H, Hamada A, Ishikawa T.   +5 more
europepmc   +1 more source