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JIMD Reports, Volume 41: Focus Issue: Adults and Metabolism de Eva Morava

JIMD Reports, Volume 41: Focus Issue: Adults and Metabolism: JIMD Reports, cartea 41

Editat de Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
en Limba Engleză Paperback – 14 sep 2018
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.
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Specificații

ISBN-13: 9783662580806
ISBN-10: 3662580802
Pagini: 103
Ilustrații: VI, 131 p. 22 illus., 13 illus. in color.
Dimensiuni: 210 x 279 mm
Greutate: 0.33 kg
Ediția:1st ed. 2018
Editura: Springer Berlin, Heidelberg
Colecția Springer
Seria JIMD Reports

Locul publicării:Berlin, Heidelberg, Germany

Cuprins

Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment.- Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation.- Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.- Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example.- Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.- The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients.- Probable Diagnosis of a Patient with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing.- Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its SubcomponentFeatures.- Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study.- Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature.- Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series.- Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress.- P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler–Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years.- Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone.- Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.

Textul de pe ultima copertă

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.

Caracteristici

Unique collection of case and research reports on rare metabolic disorders Contains unusual or previously unrecorded features relevant to metabolic disorders All contributions rigorously peer-reviewed