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The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 09/2010, Volume 95, Issue 9, pp. 4227 - 4234
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American Journal of Epidemiology, ISSN 0002-9262, 2012, Volume 175, Issue 5, pp. 451 - 465
Journal Article
Blood, ISSN 0006-4971, 07/2013, Volume 122, Issue 1, pp. 112 - 123
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PLoS ONE, ISSN 1932-6203, 03/2018, Volume 13, Issue 3, pp. e0193887 - e0193887
Objective To correlate the value of lactate in fetal scalp blood at delivery and the outcomes of the offspring at four years of age. Methods Cases where scalp... 
TRIAL | PRESCHOOL-CHILDREN | ACIDEMIA | METABOLIC-ACIDOSIS | NEWBORN | MULTIDISCIPLINARY SCIENCES | COMPLICATIONS | CEREBRAL-PALSY | LABOR | LONG | Developmental Disabilities - blood | Developmental Disabilities - metabolism | Lactic Acid - blood | Developmental Disabilities - etiology | Humans | Lactic Acid - metabolism | Scalp - metabolism | Child, Preschool | Infant | Male | Fetal Blood - metabolism | Motor Cortex - metabolism | Fetal Monitoring - methods | Fetal Distress - blood | Fetal Distress - metabolism | Female | Retrospective Studies | Parturition - blood | Infant, Newborn | Parturition - metabolism | Hydrogen-Ion Concentration | Measurement | Lactates | Child development deviations | Physiological aspects | Development | Infants | Diagnosis | Research | Risk factors | Developmental disabilities | Pediatrics | Cerebral palsy | Cognitive ability | Medical records | Normality | Blood | Children | Age | Fetuses | Gynecology | Metabolism | Medical screening | Obstetrics | Childbirth & labor | Children & youth | Studies | Offspring | Hospitals | Preschool children | Womens health | Scalp | Correlation analysis | Cutoffs | Internet | Lactic acid | Index Medicus | Clinical Medicine | Obstetrics, Gynecology and Reproductive Medicine | Reproduktionsmedicin och gynekologi | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
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
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Journal Article
Epilepsia, ISSN 0013-9580, 02/2014, Volume 55, Issue 2, pp. e13 - e17
Journal Article