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1. Full Text Movement Disorders in Treatable Inborn Errors of Metabolism
by Ebrahimi‐Fakhari, Darius and Van Karnebeek, Clara and Münchau, Alexander
Movement disorders, ISSN 0885-3185, 05/2019, Volume 34, Issue 5, pp. 598 - 613
inborn errors of metabolism | treatment | movement disorders | neurotransmitter disorders | neurogenetics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Amino Acid Metabolism, Inborn Errors - complications | Niemann-Pick Disease, Type C - therapy | Hepatolenticular Degeneration - therapy | Monosaccharide Transport Proteins - deficiency | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Folic Acid Deficiency - therapy | Hepatolenticular Degeneration - physiopathology | Vitamin E Deficiency - therapy | Dystonic Disorders - complications | Brain Diseases, Metabolic - diagnosis | Vitamin E Deficiency - diagnosis | Xanthomatosis, Cerebrotendinous - diagnosis | Basal Ganglia Diseases - diagnosis | Carbohydrate Metabolism, Inborn Errors - therapy | Dystonia - etiology | Carbohydrate Metabolism, Inborn Errors - diagnosis | Parkinsonian Disorders - physiopathology | Chorea - physiopathology | Dystonia - physiopathology | Metabolic Diseases - diagnosis | Ataxia - diagnosis | Carbohydrate Metabolism, Inborn Errors - physiopathology | Metabolism, Inborn Errors - diagnosis | Folic Acid Deficiency - complications | Movement Disorders - physiopathology | Brain Diseases, Metabolic - physiopathology | Basal Ganglia Diseases - therapy | Ataxia - complications | Muscle Spasticity - physiopathology | Xanthomatosis, Cerebrotendinous - complications | Metabolic Diseases - complications | Metabolism, Inborn Errors - complications | Metabolism, Inborn Errors - physiopathology | Brain Diseases, Metabolic - complications | Glutaryl-CoA Dehydrogenase - deficiency | Carbohydrate Metabolism, Inborn Errors - complications | Ataxia - etiology | Hepatolenticular Degeneration - diagnosis | Metabolism, Inborn Errors - therapy | Niemann-Pick Disease, Type C - physiopathology | Parkinsonian Disorders - etiology | Amino Acid Metabolism, Inborn Errors - diagnosis | Brain Diseases, Metabolic - therapy | Xanthomatosis, Cerebrotendinous - therapy | Metabolic Diseases - therapy | Metabolic Diseases - physiopathology | Myoclonus - etiology | Vitamin E Deficiency - complications | Niemann-Pick Disease, Type C - diagnosis | Dystonic Disorders - physiopathology | Dystonic Disorders - therapy | Hepatolenticular Degeneration - complications | Vitamin E Deficiency - physiopathology | Ataxia - physiopathology | Ataxia - therapy | Chorea - etiology | Amino Acid Metabolism, Inborn Errors - therapy | Basal Ganglia Diseases - complications | Folic Acid Deficiency - physiopathology | Myoclonus - physiopathology | Muscle Spasticity - etiology | Dystonic Disorders - diagnosis | Basal Ganglia Diseases - physiopathology | Movement Disorders - etiology | Xanthomatosis, Cerebrotendinous - physiopathology | Folic Acid Deficiency - diagnosis | Niemann-Pick Disease, Type C - complications | Dystonic Disorders - etiology | Metabolism, Inborn errors of | Education | Mortality | Finance | Physiological aspects | Creatine | Movement disorders | Energy metabolism | Inborn errors of metabolism | Lysosomal storage diseases | Metabolism | Autophagy | Morbidity | Quality of life | Phenomenology | Psychiatrists | Differential diagnosis | Children | Phagocytosis | Index Medicus
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2. Full Text Creatine biosynthesis and transport in health and disease
by Joncquel-Chevalier Curt, Marie and Voicu, Pia-Manuela and Fontaine, Monique and Dessein, Anne-Frédérique and Porchet, Nicole and Mention-Mulliez, Karine and Dobbelaere, Dries and Soto-Ares, Gustavo and Cheillan, David and Vamecq, Joseph
Biochimie, ISSN 0300-9084, 12/2015, Volume 119, pp. 146 - 165
GAMT | CRTR | SLC6A8 | AGAT | AMP activated protein kinase | Creatine | Secondary creatine disorders | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Amino Acid Transport Systems, Basic - genetics | Humans | Nerve Tissue Proteins - deficiency | Movement Disorders - diagnosis | Amidinotransferases - genetics | Intellectual Disability - metabolism | Biological Transport, Active | Gyrate Atrophy - enzymology | Amino Acid Metabolism, Inborn Errors - genetics | Intellectual Disability - enzymology | Brain Diseases, Metabolic, Inborn - genetics | Hyperammonemia - diagnosis | Hyperammonemia - genetics | Creatine - genetics | Urea Cycle Disorders, Inborn - metabolism | Creatine - biosynthesis | Gyrate Atrophy - genetics | Plasma Membrane Neurotransmitter Transport Proteins - metabolism | Guanidinoacetate N-Methyltransferase - metabolism | Amidinotransferases - metabolism | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Language Development Disorders - enzymology | Urea Cycle Disorders, Inborn - diagnosis | Energy Metabolism | Urea Cycle Disorders, Inborn - enzymology | Movement Disorders - genetics | Mutation | Ornithine - deficiency | Amino Acid Transport Systems, Basic - metabolism | Amino Acid Metabolism, Inborn Errors - enzymology | S-Adenosylmethionine - metabolism | AMP-Activated Protein Kinases - metabolism | Hyperammonemia - metabolism | Developmental Disabilities - metabolism | Guanidinoacetate N-Methyltransferase - genetics | Ornithine - genetics | Developmental Disabilities - genetics | Language Development Disorders - metabolism | Brain Diseases, Metabolic, Inborn - enzymology | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - metabolism | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - enzymology | Developmental Disabilities - enzymology | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Movement Disorders - enzymology | Creatine - metabolism | Hyperammonemia - enzymology | Creatine - deficiency | Gyrate Atrophy - diagnosis | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Speech Disorders - metabolism | Amidinotransferases - deficiency | Brain Diseases, Metabolic, Inborn - metabolism | Language Development Disorders - genetics | Ornithine - metabolism | Gyrate Atrophy - metabolism | Prenatal Diagnosis | Speech Disorders - genetics | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Amino Acid Transport Systems, Basic - deficiency | Movement Disorders - metabolism | Animals | Urea Cycle Disorders, Inborn - genetics | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Speech Disorders - enzymology | Methylation | Mental Retardation, X-Linked - metabolism | Antioxidants | Phosphates | Algorithms | Animal behavior | Physiological aspects | GABA | Glycine | Phosphotransferases | Medical research | Medicine, Experimental | Protein kinases | Index Medicus | Life Sciences
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3. Full Text Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center
by Echeverri, Olga Y and Guevara, Johana M and Espejo-Mojica, Ángela J and Ardila, Andrea and Pulido, Ninna and Reyes, Magda and Rodriguez-Lopez, Alexander and Alméciga-Díaz, Carlos J and Barrera, Luis A
Orphanet journal of rare diseases, ISSN 1750-1172, 08/2018, Volume 13, Issue 1, pp. 141 - 141
Rare diseases | Training | Colombia | Inborn errors of metabolism | Education | Diagnosis | Research | Latin America | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Amino Acid Metabolism, Inborn Errors - diagnosis | Metabolism, Inborn Errors - diagnosis | Colombia - epidemiology | Humans | Rare Diseases - diagnosis | Rare Diseases - epidemiology | Metabolism, Inborn Errors - epidemiology | Amino Acid Metabolism, Inborn Errors - epidemiology | Metabolism, Inborn errors of | Educational aspects | Medical personnel | Enzymes | Professionals | Biology | Metabolism | Medical screening | Medical diagnosis | Developing countries--LDCs | Collaboration | Gene therapy | Bioinformatics | Metabolic disorders | Index Medicus
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4. Full Text A targeted metabolomics approach for clinical diagnosis of inborn errors of metabolism
by Jacob, Minnie and Malkawi, Abeer and Albast, Nour and Al Bougha, Salam and Lopata, Andreas and Dasouki, Majed and Abdel Rahman, Anas M
Analytica chimica acta, ISSN 0003-2670, 09/2018, Volume 1025, pp. 141 - 153
Genetic disorder | Metabolomics | Inborn errors of metabolism | Inherited disease | Dried blood spot | Targeted metabolomics | Mass spectrometry | Physical Sciences | Chemistry | Chemistry, Analytical | Science & Technology | Metabolism, Inborn errors of | Medical research | Medical errors | Bile acids | Metabolites | Physiological aspects | Medicine, Experimental | Liquid chromatography | Diagnosis | Ability | Phenotypes | Organs | Amino acids | Workflow | Mass spectroscopy | Genomes | Hormones | Polyamines | Metabolism | Patients | Organic acids | Studies | Sensitivity | Neurotransmitters | Reproducibility | Sugars | Index Medicus
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5. Inborn Errors of Bile Acid Metabolism
by Heubi, James E and Setchell, Kenneth D.R and Bove, Kevin E
Clinics in liver disease, ISSN 1089-3261, 11/2018, Volume 22, Issue 4, pp. 671 - 687
Cirrhosis | Zellweger spectrum disorder | Neonatal cholestasis | Liver | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Genetic Testing | Humans | Liver Diseases - pathology | Bile Acids and Salts - metabolism | Adrenal Hyperplasia, Congenital - complications | Adrenal Hyperplasia, Congenital - genetics | 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - deficiency | Acyl-CoA Oxidase - deficiency | Metabolism, Inborn Errors - genetics | Cholic Acid - therapeutic use | Metabolism, Inborn Errors - diagnosis | Cholestasis - etiology | Xanthomatosis, Cerebrotendinous - genetics | Liver Diseases - etiology | Racemases and Epimerases - deficiency | Steroid Hydroxylases - deficiency | Xanthomatosis, Cerebrotendinous - complications | Amino-Acid N-Acetyltransferase - deficiency | Metabolism, Inborn Errors - drug therapy | Metabolism, Inborn Errors - complications
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