Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability; Abstract; Introduction; Materials and Methods; Molecular Genetic Testing; Biochemical Testing; Imaging; Cognitive testing; EEG; Results; Discussion; Synopsis; Conflicts of Interest; Author Contributions; Compliance with Ethics Guidelines; References; Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants; Abstract; Introduction; Case Reports; Sibling 1; Sibling 2; Materials and Methods; Patient Enrollment; Urine Organic Acid Analysis; Muscle mtDNA Assay

DNA Preparation, Exome Sequencing, and Data AnalysisResults; Whole Exome Sequencing; Mitochondrial DNA Depletion Assay; Discussion; Conclusion; Synopsis; Compliance with Ethics Guidelines; References; Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Childrenś Hospital; Abstract; Introduction; Methods; Results; Discussion; Conclusion; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; References; Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report...

AbstractIntroduction; Case Presentation; Past Medical History; Discussion; Conclusion; Contributions of Individual Authors; Guarantor for the Article; Compliance with Ethics Guidelines; Competing Interests; Funding; Ethics; References; Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient; Abstract; Compliance with Ethics Guidelines; Conflict of Interest; Details of the Contributions of Individual Authors; References; Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine; Abstract; Introduction; Case Reports

Patient 1Patient 2; Patient 3; Discussion; Take-Home Message; Authors ́Contribution; Competing Interest Statement; Ethics Statement; References; Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Featu...; Abstract; Introduction; Methods; Measurements of the Respiratory Chain Enzymes in Muscle; Immunoblotting; Genetic Investigations; Case Report and Results; Clinical and Neurological Presentation, Cerebral MRI Findings; Clinical Chemical, Metabolic, and Endocrine Findings

Measurements of the Respiratory Chain Enzymes in MuscleGenetic Investigations; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Author Contributions; References; Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience; Abstract; Introduction; Materials and Methods; Results; Discussion; Synopsis; Conflict of Interests; Consent; Ethics; Authors ́Contributions; Funding; References; The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening; Abstract; Introduction