Search Result "acidemia"
Glutaric Acidemia Type 1: Diagnosis, Clinical features, and Outcome in a Portuguese Cohort
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 24 Issue: 16 Year: 2024 Page: 27-27
Author(s): PatrÃcia Lipari Pinto,Rita Santos Loureiro
Diffusion Tensor Imaging Parameters in Children with Acute Hyperammonemic Encephalopathy due to Urea Cycle Enzyme Defects and Organic Acidemia
Journal: Current Medical Imaging
Volume: 14 Issue: 5 Year: 2018 Page: 837-844
Author(s): Serpil Kurtcan,Alpay Alkan,Huseyin Toprak,Demet Demirkol,Umit Tuzun,Ayse Aralasmak
Gene Transfer for Inborn Errors of Metabolism of the Liver: The Clinical Perspective
Journal: Current Pharmaceutical Design
Volume: 17 Issue: 2 Year: 2011 Page: 2550-2557
Author(s): David Cassiman
Clinical, Biochemical and Molecular Features of a Cohort of 8 Patients with Inherited Disorders of Vitamin B12 Metabolism in a Metabolic Reference Center
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 24 Issue: 16 Year: 2024 Page: 6-6
Author(s):
Perinatal Gene Transfer to the Liver
Journal: Current Pharmaceutical Design
Volume: 17 Issue: 2 Year: 2011 Page: 2528-2541
Author(s): Tristan R. McKay, Ahad A. Rahim, Suzanne M.K. Buckley, Natalie J. Ward, Jerry K.Y.Chan, Steven J. Howe, Simon N. Waddington
Pyruvate Dehydrogenase E3 Deficiency - Heterozygous Mutation inDihydrolipoamide Dehydrogenase (DLD) Gene Associated with SymptomaticHypoglycaemia. A Case Report
Journal: New Emirates Medical Journal
Volume: 4 Issue: 2 Year: 2023 Page: 1-4
Author(s): Prashanth S. Veeraiah,Vikram S. Kumar
Recent Findings in Genetic and Enzymatic Analysis of Newborn Screening-Positive Subjects Based on Tandem Mass Spectrometry
Ebook: Advances in Modern Medicine
Volume: 1 Year: 2017
Author(s): Keiichi Hara,Go Tajima,Satoshi Okada,Nobuo Sakura
Doi: 10.2174/9781681080239117010024
Frequency Domain and Entropy Analysis of Fetal Heart Rate: Appealing Tools for Fetal Surveillance and Pharmacodynamic Assessment of Drugs
Journal: Cardiovascular & Hematological Disorders-Drug Targets
Volume: 8 Issue: 2 Year: 2008 Page: 91-98
Author(s): Hernani Goncalves, Ana Paula Rocha, Diogo Ayres-de-Campos, Joao Bernardes
The Molecular Basis of Type 1 Glycogen Storage Diseases
Journal: Current Molecular Medicine
Volume: 1 Issue: 1 Year: 2001 Page: 25-44
Author(s): Janice Yang Chou
Index
Ebook: Manual of Child Neurology: Problem Based Approach to Common Disorders
Volume: 1 Year: 2012
Author(s): Mohammed M.S. Jan
Doi: 10.2174/978160805022211201010134