JIMD Reports, Volume 33

Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters (Herausgeber)

Buch | Softcover

VI, 110 Seiten

2017 | 1st ed. 2017
Springer Berlin (Verlag)
978-3-662-55011-3 (ISBN)

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JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

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).

Erscheinungsdatum	26.05.2017
Reihe/Serie	JIMD Reports
Zusatzinfo	VI, 110 p. 26 illus.
Verlagsort	Berlin
Sprache	englisch
Maße	210 x 279 mm
Gewicht	308 g
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete
Themenwelt	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
Schlagworte	endocrinology • inherited metabolic diseases • medical genetics • Mendelian disorder • Metabolic disease • Pediatrics
ISBN-10	3-662-55011-3 / 3662550113
ISBN-13	978-3-662-55011-3 / 9783662550113
Zustand	Neuware