JIMD Reports, Volume 33

Front Matter....Pages i-vi
Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review....Pages 1-10
Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease....Pages 11-17
Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II....Pages 19-25
Gastrointestinal Health in Classic Galactosemia....Pages 27-32
Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses....Pages 33-39
Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria....Pages 41-47
The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency....Pages 49-53
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency....Pages 55-60
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features....Pages 61-68
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling....Pages 69-77
Peak Jump Power Reflects the Degree of Ambulatory Ability in Patients with Mitochondrial and Other Rare Diseases....Pages 79-86
 RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?....Pages 87-92
Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency....Pages 93-97
Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)....Pages 99-107
Erratum....Pages 109-110