Articles

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L-carnitine versus Propranolol for pediatric migraine prophylaxis- March 2021

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2021-04-26 08:44:13
A Novel Mutation in PEX11β Gene: A Case Report- December 2020

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2021-04-26 08:42:50
Dehydrogenase Deficiency, a Treatable Neurometabolic Disorder- October 2020

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2021-04-26 08:39:30
Approach to patients with neurometabolic diseases who show characteristic signs and symptoms(June 2020)

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2020-09-06 09:20:41
An Approach to Neurometabolic Epilepsy in Children with an Underlying(March 2020)

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2020-09-06 09:19:06
Utility of Seizure Pattern and Related Clinical Features in the Diagnosis of Neurometabolic Disorders(December 2019)

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2020-09-06 09:18:17
In silico analysis of A novel pathogenic variant in an Iranian Mucopolysaccharidosis IIIB patient identified by targeted next-generation sequencing(September 2019)

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2020-09-06 09:17:15
An uncommon presentation of mucopolysaccharidosis type IIIB similar to the landau-kleffner syndrome (June 2019)

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2020-09-06 09:16:16
Niemann-Pick Diseases; largest Iranian cohort with genetic analysis (March 2019)

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2020-09-06 09:15:16
Cockayne syndrome misdiagnosed as cerebral palsy : a case report (September 2018)

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2020-09-06 09:13:32
A novel mutation of Beta-ketothiolase deficiency: The first report from Iran and review of literature (June 2018)

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2020-09-06 09:11:22
Novel imaging finding and novel mutation in an infant with molybdenum cofactor deficiency: a mimicker of hypoxic ischaemic (March 2018)

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2020-09-06 09:10:26
Recurrent stroke in a child with TRMA syndrome and SLC19A2 gene mutation(December 2017)

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2020-09-06 09:09:31
Glutaric aciduria type 1: clinical, biochemical, neuroimaging and molecular findings in Iranian patients(September 2017)

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2020-09-06 09:08:40
Metabolic Screening in Children with Neurodevelopmental Delay, Seizure and/or Regression (July 2017)

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2020-09-06 09:07:38
Neurological and Vascular Manifestations of Ethylmalonic (October 2016)

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2020-09-06 09:06:13
Feasible Relation between Glutathione Peroxidase and Febrile Seizure(October 2016)

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2020-09-06 08:57:46
Chitotriosidase Activity and Gene Polymorphism in Iranian Patients with Gaucher Disease and Sibling Carriers (October 2016 )

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2020-09-06 08:54:40
Neurometabolic Diagnosis in Children who referred as Neurodevelopmental Delay (A Practical Criteria, in Iranian Pediatric Patients) June 2016

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2020-09-06 08:51:59
Demographic and Clinical Findings in Pediatric Patients Affected by Organic Academia (March 2016)

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2020-09-06 08:40:06
The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family(December 2015)

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2020-09-06 08:37:16
Niemann –Pick C Disease: Is It A Misnomenclature?

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2020-06-30 09:26:22
Eye see cam Video -Oculography (VOG): A New Method for Diagnosis and Following of NPC Patients

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2020-06-30 09:25:52
Other Experimental Therapies in Neimann Pick Diseases

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2020-06-30 09:25:28
Management of NPC

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2020-06-30 09:24:55
Vitamin E and Niemann–Pick Disease Type C

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2020-06-30 09:24:29
Prenatal Diagnosis and Genetic Counseling for Niemann-Pick C Disease

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2020-06-30 09:24:00
A Family Case Report of Niemman Pick C with New Mutation and Different Presentations PDF XML

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2020-06-30 09:23:27
Approach to Hereditary Storage Diseases in Patients with Hepatosplenomegaly

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2020-06-30 09:22:59
Diagnostic Methods for Neimann-Pick Type C

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2020-06-30 09:22:27
Diagnostic Methods for Gaucher Disease

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2020-06-30 09:21:53
Treatment with Miglustat in Patients Suffering from NPC

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2020-06-30 09:21:18
Preinatal Types of Niemann-Pick disease type C

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2020-06-30 09:20:50
Nieman-Pick Disease Type C: An Epileptologic View

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2020-06-30 09:20:21
Neuroimaging Findings in Storages Disease of Children

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2020-06-30 09:19:51
Clinical and Molecular Study of NPC in Iran: Report of 5 Novel Mutations

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2020-06-30 09:19:15
Approach to NPC Disease

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2020-06-30 09:18:22
Juvenile type of Niemann-Pick type C disease and our study in Iranian NPC patients

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2020-06-30 09:17:57
How We Can Put Forward the Diagnosis of NPC Disease: Suspicion Index

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2020-06-30 09:17:27
Lysosomal Storage Disease (LSDs)

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2020-06-30 09:17:00
Homocystinuria: Diagnosis and Neuroimaging Findings - of Iranian Pediatric patients

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2020-06-30 09:16:14
Approach to Neurometabolic Diseases from a Pediatric Neurological Point of View

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2020-06-30 09:15:49
The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric patients

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2020-06-30 09:15:18
GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series)

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2020-06-30 09:14:33
Propionic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder

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2020-06-30 09:14:02
Study on MRI Changes in Phenylketonuria in Patients Referred to Mofid Hospital/Iran

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2020-06-30 09:13:14
Alexander and Canavan Disease

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2020-06-30 09:11:50
Clinical Neurophysiology in Pediatric Neurometabolic Disorders

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2020-06-30 09:11:21
Neurometabolic Disorders, Clinical and Neuroimaging Finding

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2020-06-30 09:10:44
Neurometabolic Registry Site in Iran (Leukodystrophies)

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2020-06-30 09:10:01
Methylmalonic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder (An Iranian Pediatric Case Series)

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2020-06-30 09:09:21
Biotinidase Deficiency: A Reversible Neurometabolic Disorder (An Iranian Pediatric Case Series

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2020-06-30 09:08:53
Leigh Disease

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2020-06-30 09:08:04
Leber Hereditary Optic Neuropathy

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2020-06-30 08:45:31
Neurometabolic Registry Site in Iran

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2020-06-30 08:44:51
The association between EEG abnormality and behavioral disorder: developmental delay in phenylketonuria

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2020-06-30 08:31:49
L-2-Hydroxyglutaric Aciduria is a Diagnostic Indicator of Leukodystrophy: A Case Report

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2020-06-30 08:30:06