Found: 101
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Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy.
- Published in:
- 2024
- By:
- Publication type:
- Letter
Lack of association of Stevens–Johnson syndrome/toxic epidermal necrolysis due to aromatic anticonvulsants and HLA‐B alleles in South Indian children.
- Published in:
- International Journal of Dermatology, 2024, v. 63, n. 5, p. e97, doi. 10.1111/ijd.17104
- By:
- Publication type:
- Article
Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy: Authors' Reply.
- Published in:
- 2024
- By:
- Publication type:
- Letter
Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke Like Episodes: Authors' Reply.
- Published in:
- 2024
- By:
- Publication type:
- Letter
Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes.
- Published in:
- 2024
- By:
- Publication type:
- Letter
Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings.
- Published in:
- 2024
- By:
- Publication type:
- Letter
Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency.
- Published in:
- 2024
- By:
- Publication type:
- Letter
Subacute Sclerosing Panencephalitis (SSPE): A Wolf in Sheep's Clothing—Infantile Presentation Masquerading as Autoimmune Encephalitis.
- Published in:
- 2024
- By:
- Publication type:
- Letter
PHACE Syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Coarctation of the Aorta/ Cardiac Defects, and Eye Abnormalities) /Cutaneous Hemangioma-Vascular Complex Syndrome/Pascual-Castroviejo Type II Syndrome.
- Published in:
- Indian Journal of Pediatrics, 2024, v. 91, n. 1, p. 86, doi. 10.1007/s12098-023-04702-w
- By:
- Publication type:
- Article
A Rare Genetic-Metabolic Cause of Epileptic Spasms: Dihydropyrimidine Dehydrogenase Deficiency.
- Published in:
- 2023
- By:
- Publication type:
- Letter
Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia.
- Published in:
- 2023
- By:
- Publication type:
- Letter
Aicardi-Goutieres Syndrome Type-1 without Intracranial Calcifications.
- Published in:
- 2023
- By:
- Publication type:
- Letter
Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC).
- Published in:
- 2023
- By:
- Publication type:
- Letter
Ohtahara and West Syndrome due to Pyridox(am)ine-5-Phosphate Oxidase (PNPO) Deficiency with Novel Phenotype and Good Outcome without Pyridoxal-5′-Phosphate.
- Published in:
- 2023
- By:
- Publication type:
- Letter
A Treatable Cause of Global Developmental Delay with Autism Spectrum Disorder Due to Cobalamin Related Remethylation Disorder.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1.
- Published in:
- 2022
- By:
- Publication type:
- letter
Infantile Tremor Syndrome Presenting as Stroke.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Nonepileptic Paroxysmal Events (NEPE) in Children.
- Published in:
- 2022
- By:
- Publication type:
- Letter
A Treatable Cause of Global Developmental Delay with Epileptic Spasm and Delayed Myelination Due to Cobalamin-Related Remethylation Disorder.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Homocystinuria Due to MTHFR Variant Presenting As Infantile Tremor Syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Etiological Pattern of Movement Disorders in Children.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children.
- Published in:
- Indian Journal of Pediatrics, 2021, v. 88, n. 9, p. 885, doi. 10.1007/s12098-020-03570-y
- By:
- Publication type:
- Article
Horizontal Gaze Palsy with Progressive Kyphoscoliosis.
- Published in:
- Indian Journal of Pediatrics, 2021, v. 88, n. 7, p. 728, doi. 10.1007/s12098-020-03449-y
- By:
- Publication type:
- Article
Oromandibular and Laryngeal Dystonia Secondary to Dystonia 6 Due to THAP1 Variant in a Child.
- Published in:
- 2021
- By:
- Publication type:
- case study
Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Effectiveness and Safety of Brivaracetam in Children.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant.
- Published in:
- Indian Journal of Pediatrics, 2021, v. 88, n. 3, p. 312, doi. 10.1007/s12098-020-03253-8
- By:
- Publication type:
- Article
Sotos Syndrome Presenting without Gigantism.
- Published in:
- 2021
- By:
- Publication type:
- letter
Seropositive Anti-NMDAR Mediated Autoimmune Encephalitis.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms.
- Published in:
- 2020
- By:
- Publication type:
- letter
Fucosidosis with Pathogenic Variant in FUCA1 Gene.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Recurrent Stroke Like Episodes Secondary to Ornithine Transcarbamylase Deficiency.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Report of Two Siblings with Andermann Syndrome.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Aicardi-Goutieres Syndrome Presenting with Congenital Glaucoma.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Kufor-Rakeb Syndrome/ Parkinson Disease Type 9.
- Published in:
- 2020
- By:
- Publication type:
- case study
Waardenburg Syndrome Type I.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Etiological Evaluation of Global Developmental Delay.
- Published in:
- 2020
- By:
- Publication type:
- letter
Recurrent Stroke Like Episodes Secondary to Ornithine Transcarbamylase Deficiency.
- Published in:
- 2020
- By:
- Publication type:
- letter
Infantile Tremor Syndrome (ITS) Presenting as Diabetic Ketoacidosis (DKA).
- Published in:
- 2019
- By:
- Publication type:
- case study
Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency.
- Published in:
- 2019
- By:
- Publication type:
- case study
A Case of Juvenile Alexander Disease Presenting as Microcephaly.
- Published in:
- 2019
- By:
- Publication type:
- case study
Corticotrophin-ACTH in Comparison to Prednisolone in West Syndrome - A Randomized Study.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene.
- Published in:
- 2018
- By:
- Publication type:
- case study
Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation.
- Published in:
- 2018
- By:
- Publication type:
- case study
A Rare Association of Sturge Weber Syndrome with Neurofibromatosis Type-1.
- Published in:
- 2018
- By:
- Publication type:
- letter
Biotin Thiamin Responsive Basal Ganglia Disease in Siblings.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Mucolipidosis Type IV Due to Novel MCOLN1 Mutation.
- Published in:
- 2017
- By:
- Publication type:
- case study
Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Re-emergence of Tetanus: Epidemiological Features, Clinical Profile and Outcome from South India.
- Published in:
- 2016
- By:
- Publication type:
- letter