List of works - Laila A Selim

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

scientific article published on 08 September 2020

Biallelic variants in KIF14 cause intellectual disability with microcephaly

scientific article published on 17 January 2018

Blood spot versus plasma chitotriosidase: a systematic clinical comparison.

scientific article published on 29 October 2013

Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations

scientific article published on 11 January 2019

Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.

scientific article published on 24 October 2013

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group

scientific article published on 15 October 2015

Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.

scientific article published in September 2014

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

scientific article published on 4 March 2017

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

scientific article published on 27 August 2019

Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.

scientific article published on 28 November 2017

Implementation of ketogenic diet in children with drug-resistant epilepsy in a medium resources setting: Egyptian experience

scientific article published on 23 November 2018

Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.

scientific article published on 20 January 2016

Lysosomal Storage Disorders in Egyptian Children.

scientific article published on 2 February 2016

Mitochondrial Diseases as Model of Neurodegeneration.

scientific article

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

scientific article

PRRT2 mutations: exploring the phenotypical boundaries.

scientific article published on 7 October 2013

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.

scientific article published on 27 August 2015

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

scientific article published on 05 October 2019

Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: a 5 year report.

scientific article

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

scientific article published on 14 April 2012

List of works by Laila A Selim

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Blood spot versus plasma chitotriosidase: a systematic clinical comparison.

Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations

Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group

Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.

Implementation of ketogenic diet in children with drug-resistant epilepsy in a medium resources setting: Egyptian experience

Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.

Lysosomal Storage Disorders in Egyptian Children.

Mitochondrial Diseases as Model of Neurodegeneration.

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

PRRT2 mutations: exploring the phenotypical boundaries.

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: a 5 year report.

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.