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JIMD Reports, Volume 33
Údaje o názvu JIMD Reports, Volume 33 [electronic resource] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. Nakladatel Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2017. Fyz.popis VI, 110 p. 26 illus., 15 illus. in color. online resource. ISBN 9783662550120 Edice JIMD Reports, ISSN 2192-8304 ; 33 Úplný obsah 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). Poznámky k dostupnosti Přístup pouze pro oprávněné uživatele Dal.odpovědnost Morava, Eva. Baumgartner, Matthias. Patterson, Marc. Rahman, Shamima. Zschocke, Johannes. Peters, Verena. Dal.odpovědnost SpringerLink (Online service) Předmět.hesla Medicine. * Human genetics. * Molecular biology. * Metabolic diseases. * Pediatrics. Forma, žánr elektronické knihy electronic books Země vyd. Německo Jazyk dok. angličtina Druh dok. Elektronické knihy URL Plný text pro studenty a zaměstnance UPOL kniha
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).
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