JIMD Reports, Volume 39

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

Buch | Softcover

VI, 116 Seiten

2018 | 1st ed. 2018
Springer Berlin (Verlag)
978-3-662-57576-5 (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.

Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency.- Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.- The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.- Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency.- Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms.- Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis.- Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat.- Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.- Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?.- Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.- Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome].- Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.- Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment.- High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl- -Glucosaminidase in Mucopolysaccharidosis Type IIIB.- Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review.

Erscheinungsdatum	07.06.2018
Reihe/Serie	JIMD Reports
Zusatzinfo	VI, 116 p. 20 illus., 8 illus. in color.
Verlagsort	Berlin
Sprache	englisch
Maße	210 x 279 mm
Gewicht	323 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	3-662-57576-0 / 3662575760
ISBN-13	978-3-662-57576-5 / 9783662575765
Zustand	Neuware