Unique collection of case and research reports on rare metabolic disordersContains unusual or previously unrecorded features relevant to metabolic disorders
All contributions rigorously peer-reviewed

Unique collection of case and research reports on rare metabolic disorders Contains unusual or previously unrecorded features relevant to metabolic disorders All contributions rigorously peer-reviewed Includes supplementary material: sn.pub/extras

Inhalt
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 LeschNyhan Disease: A Case Report and Review of the Literature.- Vitamin B12 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.<p