about
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystoniaDiagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert groupGenetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: a 5 year report.Lysosomal Storage Disorders in Egyptian Children.PRRT2 mutations: exploring the phenotypical boundaries.Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.Blood spot versus plasma chitotriosidase: a systematic clinical comparison.Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.Biallelic variants in KIF14 cause intellectual disability with microcephaly.Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.Mitochondrial Diseases as Model of Neurodegeneration.Implementation of ketogenic diet in children with drug-resistant epilepsy in a medium resources setting: Egyptian experienceRecurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephalyClinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutationsGenetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
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P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Laila A Selim
@en
Laila A Selim
@nl
type
label
Laila A Selim
@en
Laila A Selim
@nl
prefLabel
Laila A Selim
@en
Laila A Selim
@nl
P31
P496
0000-0002-6548-6545