Jimd Reports, Volume 40 by Eva Morava at Bookstore UAE
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Jimd Reports, Volume 40

Jimd Reports, Volume 40


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About the Book

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.



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Product Details
  • ISBN-13: 9783662578797
  • Publisher: Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
  • Binding: Paperback
  • Language: English
  • Returnable: Y
  • Spine Width: 6 mm
  • Width: 216 mm
  • ISBN-10: 3662578794
  • Publisher Date: 30 Jul 2018
  • Height: 279 mm
  • No of Pages: 103
  • Series Title: Jimd Reports
  • Weight: 331 gr


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