about
Childhood leukodystrophies: A literature review of updates on new definitions, classification, diagnostic approach and management.Bilateral basal ganglia involvement in a patient with Griscelli syndrome.Vaccine-associated paralytic poliomyelitis in immunodeficient children, Iran, 1995-2008.Evaluation of Educational Environment for Medical Students of a Tertiary Pediatric Hospital in Tehran, Using DREEM Questionnaire.Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review.Late-onset pompe disease in Iran: A clinical and genetic report.Single nucleotide polymorphisms of TNF-Α gene in febrile seizures.Association of IL4 single-nucleotide polymorphisms with febrile seizures.Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.Association of IL6 single nucleotide polymorphisms with febrile seizures.Efficacy and usability of buccal midazolam in controlling acute prolonged convulsive seizures in children.Efficacy and safety of intravenous sodium valproate versus phenobarbital in controlling convulsive status epilepticus and acute prolonged convulsive seizures in children: a randomised trial.Melatonin versus chloral hydrate for recording sleep EEG.Executive dysfunction in treated phenylketonuric patients.B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.The quality of life in boys with Duchenne muscular dystrophy.LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency.The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System.Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series.Association of TGFB, but not IL10, single nucleotide polymorphisms with febrile seizures.The efficacy of the ketogenic diet in infants and young children with refractory epilepsies using a formula-based powder.The effects of classic ketogenic diet on serum lipid profile in children with refractory seizures.Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literatureSZT2 mutation in a boy with intellectual disability, seizures and autistic featuresClinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutationsSkull defects, alopecia and distinctive facies: a new syndrome?Selenium and intractable epilepsy: is there any correlation?Extensive Mongolian spots: a clinical sign merits special attentionAdverse drug and medical instrument reactions in a pediatric intensive care unitDiffuse dermal melanocytosis in two patients with Sandhoff disease and mucopolysaccharidosis VIElectroretinographic responses in epileptic children treated with vigabatrinClinical Characteristics and Electrodiagnostic Features of Guillain-Barré Syndrome Among the Pediatric PopulationOverexpression of SMN2 Gene in Motoneuron-Like Cells Differentiated from Adipose-Derived Mesenchymal Stem Cells by Ponasterone ALeukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrumHypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated PatientsRNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variantLevetiracetam for prophylactic treatment of pediatric migraine: A randomized double-blind placebo-controlled trialPrimary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review
P50
Q31156378-BA3864AE-02FD-4B06-8AFC-095C33195EBDQ33372531-787829DA-D54B-479D-8765-250637192B84Q35877053-FBE2D540-87CE-4AED-8D50-7461CC0FD5FAQ36175607-17178293-5656-44C1-9D80-244870EB18D6Q39259273-8268153A-9205-499D-AA58-FCC601E26416Q39370287-F70C64AE-BCA3-4500-B1BC-801C6F40E4DAQ40788761-9EC7C925-9179-4BBC-8D94-8F25427CB515Q41694721-6079C694-115A-426C-AF5E-3D4ABAE42CADQ41702688-F155E874-9959-4BDA-B990-BA303ABD8162Q42215001-7AF03D25-F91F-4D99-8B67-5AAD2D37422CQ43017332-0B0B6D1C-0FC7-4247-8120-C7D8E6CE2F4AQ44166610-534E59CE-DC90-4C27-A57C-16264F672A5EQ45925682-0766B2D4-9927-4511-8D1F-605D9FF79EB1Q46119996-4CEB1CEB-4E54-4E65-9135-05FD94AD6A43Q47102006-2486F834-C007-40FD-8722-62BAA59FA393Q47619107-4EA670C3-A57D-4CF8-A397-6736B875143AQ47791677-AFFB10DA-DA2F-48FE-B40E-0B65BE830237Q48430955-C25B1373-65A1-4C6D-BCF3-A2D94AA616EBQ50047667-694A9E5C-82BA-42D3-B5F1-1D4D75917FCBQ50358080-AE80494D-0D8A-47BA-8109-62CFF45D6DF0Q50903913-8AA3EE6E-B89B-459E-AD49-4E477FB02547Q52784486-135EC278-A7AF-4259-AEC1-850AC56A7917Q53800756-55306FD0-C27A-4EEF-8F5E-E8CF8293DEFBQ54541514-D55A6E3B-8224-42E4-8008-E09368FDFEDDQ56958407-7890AE40-FC50-4B4B-B631-36A233187651Q57802665-D7342FA5-A9E7-43E9-9BB5-2AAAAAEC2BC1Q58801324-BFA55010-CD84-44CF-AE2E-21E0385A50F5Q59461797-44A1FD03-B90B-4C42-AD6E-CA75C588F89BQ79426692-A3E0C10D-57ED-46FA-BF54-4B26F436520CQ82470913-4D294CD6-03EC-4D6A-BB06-1BD0EE4B6E6FQ84296351-EAA04593-4C1F-463F-B910-9940A672F83BQ86544980-615EF263-EBAA-40CF-B3A5-7B8B5EA579AAQ86920912-0F07A937-11CD-44B4-962A-C7592AE1D4DCQ90194403-73CC4918-D39B-4C73-ACBB-421A7E8124BBQ90394622-797D0893-ABBB-4BCE-A7BE-EB4F6BF45DD2Q91624510-40C1A476-BC81-4F8D-8F69-3C431975545DQ91804418-EEBF2BDD-74B3-435C-8798-07547A92D2B9Q92211605-CB2CBF5D-32CC-4766-B6B0-B54AADB84302Q92468534-9FDEB91E-9AE2-40DC-8C6C-3902CA52078EQ92922162-353D0125-BFB1-4511-921F-32A9FD62A07A
P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Mahmood Reza Ashrafi
@en
Mahmood Reza Ashrafi
@nl
type
label
Mahmood Reza Ashrafi
@en
Mahmood Reza Ashrafi
@nl
prefLabel
Mahmood Reza Ashrafi
@en
Mahmood Reza Ashrafi
@nl
P31
P496
0000-0001-5483-6549