Results 121 to 130 of about 954 (147)

Mass Spectrometry as a First-Line Diagnostic Aid for Congenital Disorders of Glycosylation. [PDF]

Mass Spectrom (Tokyo)
Wada Y.
europepmc   +1 more source

AAV9-mediated NGLY1 gene replacement suppresses non-epileptic convulsions in Ngly1-/- rats.

Biochemical and Biophysical Research Communications
N-glycanase 1 (NGLY1) deficiency is a rare autosomal-recessive neurological disorder characterized by neurological dysfunction and so far, has no effective therapy.
Makoto Asahina, Reiko Fujinawa, Hiroto Hirayama, Hiroshi Yukitake, Tadashi Suzuki   +4 more
semanticscholar   +2 more sources

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NGLY1: A fascinating, multifunctional molecule.

Biochimica et Biophysica Acta (BBA) - General Subjects, 2023
NGLY1, a cytoplasmic de-N-glycosylating enzyme is well conserved among eukaryotes. This enzyme has attracted considerable attention after mutations on the NGLY1 gene were found to cause a rare genetic disorder called NGLY1 deficiency.
Tadashi Suzuki, Haruhiko Fujihira
semanticscholar   +3 more sources

Delineating the epilepsy phenotype of NGLY1 deficiency

Journal of Inherited Metabolic Disease, 2022
We delineated the phenotypic spectrum of epilepsy in individuals with NGLY1 deficiency from an international cohort. We collected detailed clinical and electroencephalographic data from 29 individuals with bi‐allelic (likely) pathogenic variants in NGLY1
R. J. Levy, Christina H. Frater, William B. Gallentine, Jennifer M. Phillips, M. Ruzhnikov   +4 more
semanticscholar   +3 more sources

A Rare Case: NGLY1 Deficiency and Diaphragmatic Eventration

Turkish Archives of Pediatrics
Cite this article as: Pekal AB, Şevik R, Yüzbaşı BK, Güngör O, Karaer K. A rare case: NGLY1 deficiency and diaphragmatic eventration. Turk Arch Pediatr.Published online November 26, 2025.
Ayşe Büşra Pekal, Rümeysa Şevik, B. Yüzbaşı, O. Güngör, Kadri Karaer   +4 more
semanticscholar   +2 more sources

Ocular features of NGLY1 deficiency from a prospective longitudinal cohort.

Journal of American Association for Pediatric Ophthalmology and Strabismus
BACKGROUND NGLY1 deficiency is a rare autosomal recessive disorder with core features of global developmental delay, liver enzyme abnormalities, movement disorder, polyneuropathy, and hypo- or alacrima. We characterized the full spectrum and evolution of
Christina H. Frater, M. Ruzhnikov, Shannon Beres, D. Alcorn, Ann Shue, R. J. Levy   +5 more
semanticscholar   +3 more sources

NGLY1 deficiency - clinical features and therapeutic strategy.

Journal of Human Genetics
Haruhiko Fujihria, Hiroto Hirayama, Tadashi Suzuki   +2 more
semanticscholar   +2 more sources

NGLY1 deficiency: Novel variants and literature review

European Journal of Medical Genetics, 2021
NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, and for that reason grouped as the congenital disorders of deglycosylation together with the lysosomal storage disorders. The typical phenotype is characterized by intellectual disability, liver malfunctioning, muscular hypotonia, involuntary
Ariana Kariminejad, Marjan Shakiba, Mehrvash Shams, Parva Namiranian, Maryam Eghbali, Said Talebi, Mina Makvand, Jaak Jaeken, Hossein Najmabadi, Raoul C. Hennekam   +9 more
openaire   +4 more sources

NGLY1 deficiency natural history study

Molecular Genetics and Metabolism
Bernhard Suter, J. Thompson, Regina Deck, Selina S Dwight, David Weinstein   +4 more
semanticscholar   +2 more sources

Correction: NGLY1 deficiency - clinical features and therapeutic strategy.

Journal of Human Genetics
Haruhiko Fujihira, Hiroto Hirayama, Tadashi Suzuki   +2 more
semanticscholar   +2 more sources