JIMD Reports, Volume 40 (eBook, PDF)

Redaktion: Morava, Eva; Peters, Verena; Zschocke, Johannes; Rahman, Shamima; Patterson, Marc; Baumgartner, Matthias

• Format: PDF

Produktbeschreibung

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

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Produktdetails

• Verlag: Springer Berlin Heidelberg
• Seitenzahl: 103
• Erscheinungstermin: 17. Juli 2018
• Englisch
• ISBN-13: 9783662578803
• Artikelnr.: 56812478

Inhaltsangabe

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.