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Jimd Reports, Volume 33

Jimd Reports, Volume 33

          
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About the Book

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).


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Product Details
  • ISBN-13: 9783662550113
  • Publisher: Springer
  • Publisher Imprint: Springer
  • Edition: 1st ed. 2017
  • Language: English
  • Returnable: Y
  • Spine Width: 6 mm
  • Width: 210 mm
  • ISBN-10: 3662550113
  • Publisher Date: 12 May 2017
  • Binding: Paperback
  • Height: 279 mm
  • No of Pages: 110
  • Series Title: Jimd Reports
  • Weight: 285 gr


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