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Molecular Genetics and Metabolism, ISSN 1096-7192, 2015, Volume 116, Issue 4, pp. 231 - 241
Tandem MS "profiling" of acylcarnitines and amino acids was conceived as a first-tier screening method, and its application to expanded newborn screening has... 
Newborn screening follow-up | Second-tier analysis | Carnitine analysis | Metabolism research | Quantitative acylcarnitine analysis | MEDICINE, RESEARCH & EXPERIMENTAL | DIFFERENTIAL-DIAGNOSIS | TOTAL CARNITINE | ACID CHAIN-ELONGATION | DRIED BLOOD SPOTS | MASS-SPECTROMETRY | INBORN-ERRORS | PERFORMANCE LIQUID-CHROMATOGRAPHY | ISOVALERIC ACIDEMIA | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | HUMAN-URINE | MOLECULAR-BASIS | Lipid Metabolism, Inborn Errors - urine | Betaine - cerebrospinal fluid | Carbon-Carbon Ligases - blood | Chromatography, High Pressure Liquid - methods | Chromatography, High Pressure Liquid - standards | Humans | Amino Acid Metabolism, Inborn Errors - cerebrospinal fluid | Male | Carbon-Carbon Ligases - cerebrospinal fluid | Neonatal Screening | Isomerism | Acyl-CoA Dehydrogenase - urine | Amino Acid Metabolism, Inborn Errors - diagnosis | Urea Cycle Disorders, Inborn - urine | Amino Acid Metabolism, Inborn Errors - urine | Sensitivity and Specificity | Acetyl-CoA C-Acyltransferase - urine | Acetyl-CoA C-Acyltransferase - blood | Carnitine - urine | Carnitine - cerebrospinal fluid | Female | Betaine - blood | Betaine - urine | Carbon-Carbon Ligases - deficiency | Carnitine - analogs & derivatives | Urea Cycle Disorders, Inborn - blood | Infant, Newborn | Acetyl-CoA C-Acyltransferase - cerebrospinal fluid | Lipid Metabolism, Inborn Errors - cerebrospinal fluid | Reproducibility of Results | Tandem Mass Spectrometry - standards | Lipid Metabolism, Inborn Errors - blood | Lipid Metabolism, Inborn Errors - diagnosis | Carnitine - blood | Carbon-Carbon Ligases - urine | Acyl-CoA Dehydrogenase - cerebrospinal fluid | Amino Acid Metabolism, Inborn Errors - blood | Betaine - analogs & derivatives | Urea Cycle Disorders, Inborn - diagnosis | Acyl-CoA Dehydrogenase - blood | Acyl-CoA Dehydrogenase - deficiency | Acetyl-CoA C-Acyltransferase - deficiency | Urea Cycle Disorders, Inborn - cerebrospinal fluid | Analysis | Carnitine | Index Medicus
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2018, Volume 125, Issue 3, pp. 235 - 240
Continuous EEG studies demonstrate that neonates with seizures due to cerebral pathology, such as hypoxia ischemia, exhibit predominantly electrographic... 
MEDICINE, RESEARCH & EXPERIMENTAL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Seizures - blood | Argininosuccinate Synthase - blood | Metabolism, Inborn Errors - diagnostic imaging | Argininosuccinic Aciduria - blood | Amino Acid Metabolism, Inborn Errors - physiopathology | Argininosuccinic Aciduria - physiopathology | Humans | Infant | Male | Electroencephalography | Seizures - diagnostic imaging | Seizures - physiopathology | Hypoxia-Ischemia, Brain - diagnostic imaging | Glutamine - blood | Hypoxia-Ischemia, Brain - blood | Female | Ornithine Carbamoyltransferase Deficiency Disease - diagnostic imaging | Infant, Newborn | Hyperammonemia - physiopathology | Metabolism, Inborn Errors - blood | Ammonia - blood | Hyperammonemia - diagnostic imaging | Amino Acid Metabolism, Inborn Errors - blood | Hyperammonemia - blood | Amino Acid Metabolism, Inborn Errors - diagnostic imaging | Ornithine Carbamoyltransferase Deficiency Disease - physiopathology | Ornithine Carbamoyltransferase Deficiency Disease - blood | Argininosuccinic Aciduria - diagnostic imaging | Metabolism, Inborn Errors - physiopathology | Hypoxia-Ischemia, Brain - physiopathology | Metabolism, Inborn errors of | Infants (Newborn) | Phosphates | Urea | Ammonia | Medical colleges | Neurosciences | Medical records | Physiological aspects | Seizures (Medicine) | Glutamine | Index Medicus
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 01/2017, Volume 12, Issue 1, pp. 3 - 3
Background: Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the... 
Inborn error of metabolism | Lupus | Myocardial infarction | Hemophagocytic lymphohistiocytosis | Urea Cycle disorder | Pulmonary alveolar proteinosis | Lysine | Hyperammonemia | Lysinuric protein intolerance | Amyloidosis | MEDICINE, RESEARCH & EXPERIMENTAL | MACROPHAGES | DEFICIENCY | CHILDREN | GLOMERULAR-FILTRATION-RATE | SLC7A7 | MUTATION | GENETICS & HEREDITY | DYSFUNCTION | Y(+)LAT-1 | LUNG INVOLVEMENT | Myocardial Infarction - blood | Humans | Child, Preschool | Infant | Lupus Nephritis - blood | Young Adult | Amino Acid Metabolism, Inborn Errors - metabolism | Myocardial Infarction - pathology | Pulmonary Alveolar Proteinosis - metabolism | Adult | Lupus Nephritis - metabolism | Kidney Diseases - blood | Retrospective Studies | Amino Acid Metabolism, Inborn Errors - pathology | Urea Cycle Disorders, Inborn - blood | Child | Lysine - blood | Kidney Diseases - metabolism | Lupus Nephritis - pathology | Multiple Chronic Conditions | Urea Cycle Disorders, Inborn - metabolism | Kidney Diseases - pathology | Urea Cycle Disorders, Inborn - pathology | Pulmonary Alveolar Proteinosis - blood | Myocardial Infarction - metabolism | Amino Acid Metabolism, Inborn Errors - blood | Pulmonary Alveolar Proteinosis - pathology | Pancreatitis - blood | Adolescent | Pancreatitis - pathology | Mutation | Pancreatitis - metabolism | Index Medicus
Journal Article
Journal Article
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 02/2017, Volume 19, Issue 2, pp. 256 - 263
Cerebral creatine deficiency syndromes are neurometabolic conditions characterized by intellectual disability, seizures, speech delay, and behavioral... 
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | ARGININEGLYCINE AMIDINOTRANSFERASE | neurometabolic disorders | CLINICAL-FEATURES | creatine deficiency | TANDEM MASS-SPECTROMETRY | INBORN ERROR | interpretation and reporting | AMIDINOTRANSFERASE AGAT DEFICIENCY | SLC6A8 DEFICIENCY | GAMT DEFICIENCY | LINKED MENTAL-RETARDATION | ACMG laboratory guideline | clinical biochemical genetic testing | GENETICS & HEREDITY | TRANSPORTER DEFICIENCY | Creatine - cerebrospinal fluid | Plasma Membrane Neurotransmitter Transport Proteins - blood | Intellectual Disability - cerebrospinal fluid | Mental Retardation, X-Linked - cerebrospinal fluid | Genomics | Humans | Amino Acid Metabolism, Inborn Errors - cerebrospinal fluid | Amidinotransferases - genetics | Intellectual Disability - urine | Plasma Membrane Neurotransmitter Transport Proteins - cerebrospinal fluid | Intellectual Disability - blood | Amidinotransferases - cerebrospinal fluid | Amino Acid Metabolism, Inborn Errors - genetics | Guanidinoacetate N-Methyltransferase - urine | Amidinotransferases - blood | Developmental Disabilities - cerebrospinal fluid | Brain Diseases, Metabolic, Inborn - genetics | Speech Disorders - blood | Repressor Proteins - urine | Language Development Disorders - cerebrospinal fluid | Creatine - genetics | Genetic Testing - standards | Mental Retardation, X-Linked - blood | Brain Diseases, Metabolic, Inborn - cerebrospinal fluid | Repressor Proteins - genetics | Movement Disorders - blood | Amino Acid Metabolism, Inborn Errors - blood | Developmental Disabilities - urine | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Amidinotransferases - urine | Movement Disorders - genetics | Speech Disorders - cerebrospinal fluid | Brain Diseases, Metabolic, Inborn - blood | Developmental Disabilities - blood | Mental Retardation, X-Linked - urine | Guidelines as Topic | Language Development Disorders - blood | Genetics, Medical - standards | Guanidinoacetate N-Methyltransferase - genetics | Movement Disorders - urine | Developmental Disabilities - genetics | Creatine - blood | Intellectual Disability - genetics | Mental Retardation, X-Linked - genetics | Guanidinoacetate N-Methyltransferase - cerebrospinal fluid | Speech Disorders - urine | Amino Acid Metabolism, Inborn Errors - urine | Creatine - metabolism | Creatine - deficiency | Guanidinoacetate N-Methyltransferase - blood | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Amidinotransferases - deficiency | Movement Disorders - cerebrospinal fluid | Creatine - urine | Language Development Disorders - genetics | Brain Diseases, Metabolic, Inborn - urine | Repressor Proteins - blood | Speech Disorders - genetics | Language Development Disorders - urine | Plasma Membrane Neurotransmitter Transport Proteins - urine | Repressor Proteins - cerebrospinal fluid | Clinical Laboratory Techniques - methods | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Index Medicus
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 148 - 148
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 07/2013, Volume 36, Issue 4, pp. 613 - 619
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Journal Article