Results 171 to 180 of about 1,366 (180)

Clarifying the mitochondrial phenotype of NGLY1 deficiency

Mitochondrion, 2015
Lea Latham, Christina Lam, Carlos Ferreira, Donna Krasnewich, William Gahl, Lynne Wolfe   +5 more
openaire   +1 more source

Ever-expanding NGLY1 biology

Journal of Biochemistry, 2022
Tadashi Suzuki, Yukiko Yoshida
exaly  

Patient-derived gene and protein expression signatures of NGLY1 deficiency

Journal of Biochemistry, 2022
Benedikt Rauscher, William F Mueller, Sandra Clauder-Münster   +2 more
exaly  

Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2020
Lars M Steinmetz, Hiroto Hirayama, Hyeon-Cheol Lee   +2 more
exaly  

NGLY1 deficiency natural history study

Molecular Genetics and Metabolism
Bernhard Suter, Julie Thompson, Regina Deck, Selina Dwight, David Weinstein   +4 more
openaire   +1 more source

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency

Molecular Genetics and Metabolism, 2018
Patricia L Hall, Christina Lam, Hudson H Freeze   +2 more
exaly  

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Molecular Genetics and Metabolism, 2019
Hubertus C M T Prinsen, Johan Gerrits, Jan M Friedman   +2 more
exaly  

NGLY1 deficiency - clinical features and therapeutic strategy

Journal of Human Genetics
Haruhiko Fujihira, Hiroto Hirayama, Tadashi Suzuki   +2 more
openaire   +1 more source

. Nadir Bir Hücresel Trafik Bozukluğu: NGLY1 Eksikliği

2023
TEKE KISA, PELİN, ER, ESRA
openaire   +1 more source

Correction: NGLY1 deficiency - clinical features and therapeutic strategy

Journal of Human Genetics
Haruhiko Fujihira, Hiroto Hirayama, Tadashi Suzuki   +2 more
openaire   +1 more source