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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. 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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3. Full Text Inborn errors of metabolism causing epilepsy
by RAHMAN, SHAMIMA and FOOTITT, EMMA J and VARADKAR, SOPHIA and CLAYTON, PETER T
Developmental medicine and child neurology, ISSN 0012-1622, 01/2013, Volume 55, Issue 1, pp. 23 - 36
Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Age Factors | Humans | Pyridoxine - therapeutic use | Ubiquinone - therapeutic use | Epilepsy - drug therapy | Infant | Epilepsy - etiology | Metabolism, Inborn Errors - complications | Metabolism, Inborn Errors - classification | Index Medicus
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4. Full Text Anesthetic Management of Patients with Inborn Errors of Metabolism
by Kloesel, Benjamin and Holzman, Robert S
Anesthesia and analgesia, ISSN 0003-2999, 09/2017, Volume 125, Issue 3, pp. 822 - 836
Life Sciences & Biomedicine | Anesthesiology | Science & Technology | Anesthesia - methods | Humans | Intraoperative Complications - prevention & control | Metabolism, Inborn Errors - metabolism | Pain Management - methods | Anesthesia - adverse effects | Intraoperative Complications - metabolism | Metabolism, Inborn Errors - diagnosis | Metabolism, Inborn Errors - surgery | Pain Management - adverse effects | Intraoperative Complications - etiology | Anesthetics - administration & dosage | Anesthetics - adverse effects | Index Medicus | Abridged Index Medicus
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5. Full Text Neurodevelopmental Outcome after Hematopoietic Cell Transplantation in Inborn Errors of Metabolism: Current Considerations and Future Perspectives
by Boelens, Jaap Jan and van Hasselt, Peter M
Neuropediatrics, ISSN 0174-304X, 10/2016, Volume 47, Issue 5, pp. 285 - 292
gene therapy | indications | Review | neurodevelopment | hematopoietic cell transplantation | Journal Article | Review Article | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Adrenoleukodystrophy - physiopathology | Humans | Mucopolysaccharidosis I - physiopathology | Adrenoleukodystrophy - psychology | Leukodystrophy, Metachromatic - psychology | Metabolism, Inborn Errors - therapy | Neurodevelopmental Disorders - psychology | Leukodystrophy, Globoid Cell - psychology | Leukodystrophy, Globoid Cell - physiopathology | Adrenoleukodystrophy - therapy | Leukodystrophy, Globoid Cell - complications | Mucopolysaccharidosis I - therapy | Adrenoleukodystrophy - complications | Leukodystrophy, Globoid Cell - therapy | Neurodevelopmental Disorders - etiology | Leukodystrophy, Metachromatic - physiopathology | Hematopoietic Stem Cell Transplantation | Leukodystrophy, Metachromatic - therapy | Neurodevelopmental Disorders - physiopathology | Mucopolysaccharidosis I - complications | Leukodystrophy, Metachromatic - complications | Mucopolysaccharidosis I - psychology | Metabolism, Inborn Errors - psychology | Metabolism, Inborn Errors - complications | Metabolism, Inborn Errors - physiopathology
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6. Full Text Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans
by Item, Chike Bellarmine and Stöckler-Ipsiroglu, Sylvia and Stromberger, Carmen and Mühl, Adolf and Alessandrì, Maria Grazia and Bianchi, Maria Cristina and Tosetti, Michela and Fornai, Francesco and Cioni, Giovanni
American journal of human genetics, ISSN 0002-9297, 2001, Volume 69, Issue 5, pp. 1127 - 1133
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Errors of metabolism | Biological and medical sciences | Metabolic diseases | Medical sciences | Aminoacid disorders | Glycine - analogs & derivatives | Glycine - urine | Humans | Child, Preschool | Molecular Sequence Data | Nuclear Family | RNA, Messenger - analysis | Amidinotransferases - genetics | Intellectual Disability - complications | Intellectual Disability - genetics | Intellectual Disability - metabolism | Brain - metabolism | Amino Acid Metabolism, Inborn Errors - metabolism | Amino Acid Metabolism, Inborn Errors - genetics | Lymphocytes | Base Sequence | Creatine - metabolism | Creatine - administration & dosage | Fibroblasts | Intellectual Disability - enzymology | Female | Child | Amino Acid Sequence | Amidinotransferases - deficiency | RNA, Messenger - genetics | Genotype | Amidinotransferases - metabolism | Creatine - therapeutic use | Amino Acid Metabolism, Inborn Errors - enzymology | Codon, Nonsense - genetics | Amino Acid Metabolism, Inborn Errors - drug therapy | Metabolism, Inborn errors of | Enzymes | Physiological aspects | Genetic aspects | Regulation | Creatine | Mental retardation | creatine | Arginine:glycine amidinotransferase | Index Medicus | Report
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7. Full Text Nephrolithiasis related to inborn metabolic diseases
by Cochat, Pierre and Cochat, Pierre and Pichault, Valérie and Pichault, Valérie and Bacchetta, Justine and Bacchetta, Justine and Dubourg, Laurence and Dubourg, Laurence and Sabot, Jean-François and Sabot, Jean-François and Saban, Christine and Saban, Christine and Daudon, Michel and Daudon, Michel and Liutkus, Aurélia and Liutkus, Aurélia
Pediatric Nephrology, ISSN 0931-041X, 3/2010, Volume 25, Issue 3, pp. 415 - 424
Pyrimidine metabolism | Pediatrics | Nephrocalcinosis | Medicine & Public Health | Glycogen storage disease type 1 | Primary hyperoxaluria | Nephrolithiasis | Uric acid | Xanthine | Fanconi syndrome | Cystinuria | Purine metabolism | Glycogen storage disease type 1 | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Amino Acid Metabolism, Inborn Errors - complications | Nephrolithiasis - etiology | Purine-Pyrimidine Metabolism, Inborn Errors - metabolism | Humans | Glycogen Storage Disease Type I - metabolism | Hyperoxaluria - etiology | Metabolism, Inborn Errors - genetics | Glycogen Storage Disease Type I - complications | Amino Acid Metabolism, Inborn Errors - metabolism | Glycogen Storage Disease Type I - genetics | Amino Acid Metabolism, Inborn Errors - genetics | Purine-Pyrimidine Metabolism, Inborn Errors - complications | Purine-Pyrimidine Metabolism, Inborn Errors - genetics | Nephrolithiasis - genetics | Child | Hyperoxaluria - genetics | Metabolism, Inborn Errors - complications | Metabolic disorders | Index Medicus | Educational Review
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