Iman Mahmoud
Assistant consultant of pediatrics,neurometabolic unit,Cairo University Children Hospital.
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Publications
Dr Iman bio
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ANTRX2- Biomarker -Farber disease -Hyaline fibromatosis syndrome -genotype -phenotype correlation
(1)
ataxia
(1)
congenital muscular dystrophy
(1)
ext.ophthalmoplegia
(1)
FA2H
(1)
genetic variation -middle east
(1)
hereditary spastic paraplegia
(2)
inborn errors of metabolism
(1)
intellectual disability
(1)
KIF 14
(1)
lysosomal acid lipase deficiency
(1)
lysosomal storage disorder
(1)
lysosomal storage dsorders
(1)
megalencephalic leukoencephalopathy with subcortical cysts
(1)
merosin negative
(1)
microcephaly
(1)
mitochondrial DNA depletion
(1)
molybdenum cofactor-sulphite oxidase deficiency
(1)
mucopolysaccharidosis-cardiovascular abnormalities
(1)
neurodegeneration
(1)
neurodevelopmental disorders
(1)
newborn screening
(1)
Niemann-Pick C
(1)
RELN mutations
(1)
screening
(1)
selective screening
(1)
sphingolipidosis
(1)
tandem mass spectrometry
(2)
urine organic acid disorders
(1)
whole exome sequencing
(1)
wolman disease
(1)
Recent Publications
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy
Genetic,clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
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