Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability .- Hyperammonemia as a Presenting Feature in Two Siblings with
FBXL4 Variants
.- Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital
.- Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature
.- Vitamin B
12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient
.- Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine
.- Previously Unreported Biallelic Mutation in
DNAJC19:Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?
.- Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience
.- The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening
.- Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency
.- Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation
.- Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts
.- Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria
.- Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis
.- Cognitive Development in a Young Child with Mucolipidosis Type IV: A Case Report
.- White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother
.- Erratum to: White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother.
