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Metabolic brain disease, ISSN 0885-7490, 1986
Journal
2004, ISBN 0198508786, xxvii. 447
Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain. Although individually rare, they... 
Brain | Lysosomal storage diseases | Treatment | Metabolism | Disorders | neuroscience
Book
2015, ISBN 9780231172363, ix, 303
"The past twenty-five years have witnessed a revolution in the science of addiction, yet we still rely upon sorely outdated methods of treatment. Expensive new... 
Brain | Pharmacogenetics | physiopathology | Treatment | Alcoholism | therapy | Behavior, Addictive | drug effects | Substance-Related Disorders | Substance abuse | metabolism | Substance abuse--Treatment | Neurosciences | Brain--Effect of drugs on | Substance abuse--Physiological aspects | Behavior, Addictive - metabolism | Drug addicts
Book
Biochimie, ISSN 0300-9084, 12/2015, Volume 119, pp. 146 - 165
Creatine is physiologically provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvements of arginine glycine... 
GAMT | CRTR | SLC6A8 | AGAT | AMP activated protein kinase | Creatine | Secondary creatine disorders | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | OXIDATIVE STRESS | BIOCHEMISTRY & MOLECULAR BIOLOGY | OXYGEN SPECIES GENERATION | UREA CYCLE DISORDERS | MAGNETIC-RESONANCE-SPECTROSCOPY | RAT-KIDNEY TRANSAMIDINASE | LINKED MENTAL-RETARDATION | ACUTE MYOCARDIAL-INFARCTION | TERM-FOLLOW-UP | ARGININE-GLYCINE AMIDINOTRANSFERASE | 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 | Life Sciences
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 7519 - 12
In silico network-based methods have shown promising results in the field of drug development. Yet, most of networks used in the previous research have not... 
SYSTEM | DATABASE | RENIN | GENE | PATHWAY | MULTIDISCIPLINARY SCIENCES | TISSUE | KEGG | NEBIVOLOL | HYPERTENSION | BLOOD-PRESSURE | Hematologic Diseases - pathology | Liver - pathology | Metabolic Diseases - pathology | Respiratory Tract Diseases - metabolism | Kidney - pathology | Skin - metabolism | Hematologic Diseases - metabolism | Humans | Muscle, Skeletal - metabolism | Respiratory Tract Diseases - drug therapy | Respiratory Tract Diseases - genetics | Brain - metabolism | Musculoskeletal Diseases - pathology | Kidney - metabolism | Liver - drug effects | Muscle, Skeletal - drug effects | Myocardium - metabolism | Nervous System Diseases - metabolism | Nutrition Disorders - pathology | Computational Biology - methods | Kidney - drug effects | Liver - metabolism | Nervous System Diseases - drug therapy | Connective Tissue Diseases - metabolism | Neoplasms - drug therapy | Brain - drug effects | Connective Tissue Diseases - drug therapy | Connective Tissue Diseases - pathology | Lung - drug effects | Brain - pathology | Hematologic Diseases - genetics | Prescription Drugs - pharmacokinetics | Digestive System Diseases - pathology | Neoplasms - metabolism | Cardiovascular Diseases - drug therapy | Drugs, Investigational - pharmacokinetics | Respiratory Tract Diseases - pathology | Hematologic Diseases - drug therapy | Metabolic Diseases - drug therapy | Cardiovascular Diseases - pathology | Nervous System Diseases - genetics | Cardiovascular Diseases - genetics | Musculoskeletal Diseases - genetics | Neoplasms - genetics | Lung - metabolism | Skin - pathology | Nervous System Diseases - pathology | Lung - pathology | Musculoskeletal Diseases - drug therapy | Cardiovascular Diseases - metabolism | Musculoskeletal Diseases - metabolism | Nutrition Disorders - drug therapy | Nutrition Disorders - genetics | Myocardium - pathology | Organ Specificity | Digestive System Diseases - genetics | Algorithms | Digestive System Diseases - drug therapy | Nutrition Disorders - metabolism | Metabolic Diseases - metabolism | Digestive System Diseases - metabolism | Metabolic Diseases - genetics | Connective Tissue Diseases - genetics | Muscle, Skeletal - pathology | Neoplasms - pathology | Skin - drug effects | Drug development
Journal Article
Movement Disorders, ISSN 0885-3185, 05/2019, Volume 34, Issue 5, pp. 625 - 636
The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that may present with motor symptoms in early childhood, resulting in a... 
cerebral palsy | inborn errors of metabolism | spasticity | ataxia | dystonia | DE-NOVO | DEVELOPMENTAL DELAY | MONOAMINE NEUROTRANSMITTER DISORDERS | COPY-NUMBER VARIATIONS | CLINICAL NEUROLOGY | DEHYDROGENASE-DEFICIENCY | BRAIN IMAGING PATTERNS | BIOTINIDASE DEFICIENCY | ATAXIA-TELANGIECTASIA | HYPERKINETIC MOVEMENT-DISORDER | DEFICIENCY SYNDROME | Brain - diagnostic imaging | Monosaccharide Transport Proteins - deficiency | Lesch-Nyhan Syndrome - therapy | Spastic Paraplegia, Hereditary - diagnosis | Humans | Movement Disorders - diagnosis | Folic Acid Deficiency - therapy | Lesch-Nyhan Syndrome - genetics | Cerebral Palsy - diagnosis | Multiple Carboxylase Deficiency - genetics | Carbohydrate Metabolism, Inborn Errors - therapy | Brain Diseases, Metabolic, Inborn - genetics | Dyskinesias - genetics | Folic Acid Deficiency - genetics | Multiple Carboxylase Deficiency - physiopathology | Carbohydrate Metabolism, Inborn Errors - diagnosis | Monosaccharide Transport Proteins - genetics | Chorea - physiopathology | Creatine - genetics | Hyperargininemia - physiopathology | Dyskinesias - physiopathology | Dystonia - physiopathology | Pelizaeus-Merzbacher Disease - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Carbohydrate Metabolism, Inborn Errors - physiopathology | Magnetic Resonance Imaging | Hyperargininemia - diagnosis | Movement Disorders - physiopathology | Dyskinesias - diagnosis | Hyperargininemia - genetics | Ataxia Telangiectasia - genetics | Lesch-Nyhan Syndrome - diagnosis | Brain Diseases, Metabolic, Inborn - therapy | Muscle Spasticity - physiopathology | Movement Disorders - genetics | Multiple Carboxylase Deficiency - diagnosis | Multiple Carboxylase Deficiency - therapy | GTP-Binding Protein alpha Subunits, Gi-Go - genetics | Spastic Paraplegia, Hereditary - genetics | Cerebral Palsy - physiopathology | Lesch-Nyhan Syndrome - physiopathology | Mental Retardation, X-Linked - physiopathology | Carbohydrate Metabolism, Inborn Errors - genetics | Brain Diseases, Metabolic, Inborn - diagnosis | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - diagnosis | Hyperargininemia - therapy | Creatine - deficiency | Thyroid Nuclear Factor 1 - genetics | Pelizaeus-Merzbacher Disease - therapy | Spastic Paraplegia, Hereditary - physiopathology | Mental Retardation, X-Linked - therapy | Ataxia Telangiectasia - diagnosis | Ataxia Telangiectasia - physiopathology | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Ataxia - physiopathology | Ataxia Telangiectasia - therapy | Diagnosis, Differential | Pelizaeus-Merzbacher Disease - genetics | Spastic Paraplegia, Hereditary - therapy | Brain Diseases, Metabolic, Inborn - physiopathology | Folic Acid Deficiency - physiopathology | Dyskinesias - therapy | Movement Disorders - therapy | Pelizaeus-Merzbacher Disease - physiopathology | Folic Acid Deficiency - diagnosis | Adenylyl Cyclases - genetics | Cerebral palsy | Development and progression | Medical genetics | Neuroimaging | Genetic counseling | Etiology | Chorea | Spasticity | Ataxia | Dystonia | Children | Paralysis | Neurodevelopmental disorders | Metabolic disorders
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 7/2017, Volume 40, Issue 4, pp. 491 - 495
The indications and outcomes of liver transplantation for metabolic disease have been reviewed recently and this short review concentrates on recent... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | WOLCOTT-RALLISON SYNDROME | PHENOTYPE | PANCREAS | MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY | FAILURE | CHILDHOOD | DEFICIENCY | VALPROATE EXPOSURE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | MUTATIONS | KIDNEY | Mitochondrial Encephalomyopathies - surgery | Purpura - genetics | Diabetes Mellitus, Type 1 - surgery | Glycine N-Methyltransferase - genetics | Humans | Glycine N-Methyltransferase - deficiency | Liver Transplantation - trends | Brain Diseases, Metabolic, Inborn - surgery | Purpura - surgery | Epiphyses - abnormalities | Amino Acid Metabolism, Inborn Errors - surgery | Osteochondrodysplasias - genetics | Amino Acid Metabolism, Inborn Errors - genetics | Intestinal Pseudo-Obstruction - surgery | Brain Diseases, Metabolic, Inborn - genetics | Neoplasm Proteins - genetics | Enzyme Replacement Therapy | Metabolic Diseases - surgery | Osteochondrodysplasias - surgery | Refsum Disease, Infantile - genetics | Mitochondrial Encephalomyopathies - genetics | Diabetes Mellitus, Type 1 - genetics | Epiphyses - surgery | Liver Neoplasms - surgery | Intestinal Pseudo-Obstruction - genetics | Refsum Disease, Infantile - surgery | Animals | Liver Failure, Acute - surgery | Liver | Transplantation | Liver diseases | Reviews | Syngeneic grafts | Metabolic disorders | Liver transplantation
Journal Article