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JIMD Reports, Volume 32 de Eva Morava

JIMD Reports, Volume 32: JIMD Reports, cartea 32

Editat de Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
en Limba Engleză Paperback – 10 mar 2017
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: 9783662543849
ISBN-10: 3662543842
Pagini: 110
Ilustrații: VI, 124 p. 30 illus., 15 illus. in color.
Dimensiuni: 210 x 279 x 7 mm
Greutate: 0.31 kg
Ediția:1st ed. 2017
Editura: Springer Berlin, Heidelberg
Colecția Springer
Seria JIMD Reports

Locul publicării:Berlin, Heidelberg, Germany

Cuprins

Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme.- Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.- Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study.- Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.- Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles.- Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis.- The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease.- Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Concentrations in Plasma of Healthy Infants.- A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria.- Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.- Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.- Management of an LCHADD Patient During Pregnancy and High Intensity Exercise.- Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy.- Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.- Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder

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