Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I

Two patients with Canavan disease and structural modeling of a novel mutation

(2016) Osama K Zaki et al.   METABOLIC BRAIN DISEASE

Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World

(2016) C. George Priya Doss et al.   Scientific Reports

Novel mutation in an Egyptian patient with infantile Canavan disease

(2015) Osama K. Zaki et al.   METABOLIC BRAIN DISEASE

Glutaric aciduria type 1: neuroimaging features with clinical correlation

(2015) Shaimaa Abdelsattar Mohammad et al.   PEDIATRIC RADIOLOGY

Molecular analysis of Cypriot patients with Glutaric aciduria type I: Identification of two novel mutations

(2014) Theodoros Georgiou et al.   CLINICAL BIOCHEMISTRY

Bioinformatics analysis of the epitope regions for norovirus capsid protein

(2013) Liping Chen et al.   BMC BIOINFORMATICS

Collective judgment predicts disease-associated single nucleotide variants

(2013) Emidio Capriotti et al.   BMC GENOMICS

Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1

(2013) Qiao Wang et al.   BRAIN & DEVELOPMENT

Use of guidelines improves the neurological outcome in glutaric aciduria type I

(2010) Jana Heringer et al.   ANNALS OF NEUROLOGY

Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1

(2010) Yuichi Mushimoto et al.   MOLECULAR GENETICS AND METABOLISM

Glutaric aciduria type I: outcome following detection by newborn screening

(2008) S. Bijarnia et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Newborn screening for glutaric aciduria type I in Victoria: Treatment and outcome

(2008) Avihu Boneh et al.   MOLECULAR GENETICS AND METABOLISM