JIMD Reports, Volume 40
Springer Berlin (Verlag)
978-3-662-57879-7 (ISBN)
Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan.- Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion.- ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation.- Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.- The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with Phenylketonuria.- Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria.- Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.- Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.- Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers.- Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features.- Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria.- Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.- Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood.- Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.- Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC.
| Erscheinungsdatum | 12.08.2018 |
|---|---|
| Reihe/Serie | JIMD Reports |
| Zusatzinfo | VI, 103 p. 20 illus., 13 illus. in color. |
| Verlagsort | Berlin |
| Sprache | englisch |
| Maße | 210 x 279 mm |
| Gewicht | 296 g |
| Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete |
| Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
| Schlagworte | endocrinology • inherited metabolic diseases • medical genetics • Mendelian disorder • Metabolic disease • Pediatrics |
| ISBN-10 | 3-662-57879-4 / 3662578794 |
| ISBN-13 | 978-3-662-57879-7 / 9783662578797 |
| Zustand | Neuware |
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