Results 131 to 137 of about 422,094 (137)

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

NGLY1 Deficiency

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

Cytosolic Peptide: N-Glycanase (NGLY1)—from Basic Biology to Genetic Disorder, NGLY1 Deficiency

Haruhiko Fujihira, Tadashi Suzuki
openaire   +1 more source

A commentary on ‘Patient-derived gene and protein expression signatures of NGLY1 deficiency’

Journal of Biochemistry
Tadashi Suzuki
exaly  

3-Dimensional Kinematic Comparison of Arm Movements between an Individual with NGLY1 Deficiency and a Neurotypical Individual

Case Reports in Clinical Medicine
Charles Layne
exaly  

Structural basis of sugar recognition by SCF FBS2 ubiquitin ligase involved in NGLY1 deficiency

FEBS Letters
Maho Yagi-Utsumi, Hirokazu Yagi
exaly