Neurologic considerations in propionic acidemia

Molecular Genetics and Metabolism

Volumn 105, Issue 1, 2012, Pages 10-15

  Schreiber, John ^a   Chapman, Kimberly A ^a   Summar, Marshall L ^a   Mew, Nicholas Ah ^a   Sutton, V Reid ^b   MacLeod, Erin ^a   Stagni, Kathy ^c   Ueda, Keiko ^d   Franks, Jill ^e   Island, Eddie ^f   Matern, Dietrich ^g   Peña, Loren ^h   Smith, Brittany ^e   Urv, Tiina ⁱ   Venditti, Charles ⁱ   Chakarapani, Anupam ^j   Gropman, Andrea L ^a  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c Organic Acidemia Association   (United States)

^d TUFTS MEDICAL CENTER   (United States)

^e Propionic Acidemia Foundation   (United States)

^f GEORGETOWN UNIVERSITY   (United States)

^g MAYO CLINIC   (United States)

^h UNIVERSITY OF ILLINOIS   (United States)

ⁱ NATIONAL INSTITUTES OF HEALTH   (United States)

^j BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

more..

Author keywords

Inborn error of metabolism; Neuroimaging; Neurological; Propionic acidemia; Seizure; Spectroscopy

Indexed keywords

BENZODIAZEPINE DERIVATIVE; ETHOSUXIMIDE; ETIRACETAM; FLUORODEOXYGLUCOSE F 18; GLYCINE; N ACETYLASPARTIC ACID; OXCARBAZEPINE; PHENOBARBITAL; PROPIONIC ACID; VALPROIC ACID; VIGABATRIN;

ABSENCE OF SIDE EFFECTS; ALZHEIMER DISEASE; BLOOD BRAIN BARRIER; BRAIN DISEASE; BRAIN EDEMA; CELL METABOLISM; CITRIC ACID CYCLE; COGNITION; COGNITIVE DEFECT; COMA; CONFERENCE PAPER; DEVELOPMENTAL DISORDER; DISEASE DURATION; DISEASE SEVERITY; DRUG DOSE TITRATION; EPILEPTOGENESIS; GENE EXPRESSION; HISTONE ACETYLATION; HUMAN; HYPERAMMONEMIA; HYPOGLYCEMIA; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; KETOACIDOSIS; LACTIC ACIDOSIS; LETHARGY; MACROGLIA; MOTOR PERFORMANCE; MUSCLE HYPOTONIA; MYOCLONUS; NEUROIMAGING; NEUROLOGICAL COMPLICATION; NEUROPATHOLOGY; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; ONSET AGE; OPTIC NERVE DISEASE; OUTCOME ASSESSMENT; OXIDATION; OXIDATIVE STRESS; PERFUSION; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; PROTEIN PHOSPHORYLATION; SEIZURE; UREA CYCLE DISORDER;

HEALTH PLANNING GUIDELINES; HUMANS; INTELLECTUAL DISABILITY; NERVOUS SYSTEM; NEUROIMAGING; PROPIONIC ACIDEMIA; TREATMENT OUTCOME;

EID: 84855358566     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.10.003     Document Type: Conference Paper

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