Results 141 to 150 of about 4,483 (224)

Glutaric aciduria type 1

, 2021
openaire   +1 more source

GLUTARIC ACIDURIA TYPE 1 PRESENTING AS SUBDURAL HAEMATOMA [PDF]

Journal of Paediatrics and Child Health, 2012
Kursat Bora Carman, Sultan Durmus Aydogdu, Ayten Yakut, Coskun Yarar   +3 more
openaire   +1 more source

Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1. [PDF]

Mov Disord Clin Pract, 2020
Ulmanová O, Koens LH, Jahnová H, de Vries JJ, de Koning TJ, Růžička E, Tijssen MAJ.   +6 more
europepmc   +1 more source

Siblings with Glutaric Aciduria Type 1 with Atypical Phenotype with Novel Pathogenic Variant in GCDH Gene.

J Pediatr Neurosci, 2021
Gowda VK, Nagarajan B, Srinivasan VM, Bhat M.   +3 more
europepmc   +1 more source

Glutaric aciduria type 1 in a Kuwaiti infant

Eastern Mediterranean Health Journal, 2004
H A, Elsori, K K, Naguib, M S, Hammoud
openaire   +2 more sources

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases. [PDF]

Metab Brain Dis, 2019
Pokora P, Jezela-Stanek A, Różdżyńska-Świątkowska A, Jurkiewicz E, Bogdańska A, Szymańska E, Rokicki D, Ciara E, Rydzanicz M, Stawiński P, Płoski R, Tylki-Szymańska A.   +11 more
europepmc   +1 more source

Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1. [PDF]

JIMD Rep, 2018
Stepien KM, Pastores GM, Hendroff U, McCormick C, Fitzimons P, Khawaja N, Borovickova I, Treacy EP.   +7 more
europepmc   +1 more source

Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms. [PDF]

JIMD Rep, 2018
du Moulin M, Thies B, Blohm M, Oh J, Kemper MJ, Santer R, Mühlhausen C.   +6 more
europepmc   +1 more source

Glutaric aciduria type 1 as a cause of dystonic cerebral palsy. [PDF]

Saudi Med J, 2015
Mohamed S, Hamad MH, Hassan HH, Salih MA.   +3 more
europepmc   +1 more source

Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. [PDF]

Biomed Res Int, 2016
Abdul Wahab SA, Yakob Y, Abdul Azize NA, Md Yunus Z, Huey Yin L, Mohd Khalid MK, Lock Hock N.   +6 more
europepmc   +1 more source