Results 61 to 70 of about 763 (113)

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

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

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

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

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

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

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