JIMD Reports, Volume 33 (eBook)

Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review.- Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.- Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.- Gastrointestinal Health in Classic Galactosemia.- Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses.- Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria.- The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency.- Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.- Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.- Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.- Peak Jump Power Reflects the Degree of Ambulatory Ability in Patients with Mitochondrial and Other Rare Diseases.- RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?.- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.- Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).- Erratum to: Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.- Erratum to: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).