3-Methylglutaconic aciduria type i redefined: A syndrome with late-onset leukoencephalopathy

Neurology

Volumn 75, Issue 12, 2010, Pages 1079-1083

  Wortmann, S B ^a   Kremer, B H ^b   Graham, A ^c   Willemsen, M A ^a   Loupatty, F J ^d   Hogg, S L ^e   Engelke, U F ^a   Kluijtmans, L A ^a   Wanders, R J ^f   Illsinger, S ^g   Wilcken, B ^h   Cruysberg, J R ^a   Das, A M ^g   Morava, E ^a   Wevers, R A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c IPSWICH HOSPITAL   (United Kingdom)

^d ONZE LIEVE VROUWE GASTHUIS   (Netherlands)

^e ADDENBROOKE S HOSPITAL   (United Kingdom)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

^g Children's Hospital   (Germany)

^h CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYISOVALERIC ACID; 3 METHYLGLUTACONIC ACID; 3 METHYLGLUTARIC ACID; AUH PROTEIN; ISOVALERIC ACID; PROTEIN; UNCLASSIFIED DRUG; GLUTARIC ACID DERIVATIVE; LEUCINE;

3 METHYLGLUTACONIC ACIDURIA TYPE 1; ACIDURIA; ADULT; ARTICLE; ATAXIA; ATTENTION DEFICIT DISORDER; CEREBELLAR ATAXIA; CEREBROSPINAL FLUID ANALYSIS; CHILD; CLINICAL ARTICLE; CONSANGUINITY; DEMENTIA; DISEASE COURSE; DYSARTHRIA; FEBRILE CONVULSION; FEMALE; FIBROBACTER; FOLLOW UP; GENE DELETION; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; INFANT; LEUKOENCEPHALOPATHY; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; NETHERLANDS; NEURORADIOLOGY; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SCHOOL CHILD; SPASTIC PARAPLEGIA; SPASTICITY; SPEECH DISCRIMINATION; UNITED KINGDOM; URINALYSIS; VISUAL IMPAIRMENT; WHITE MATTER; BRAIN; BRAIN MAPPING; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GENETICS; IMAGE PROCESSING; METABOLIC ENCEPHALOPATHY; METABOLISM; MIDDLE AGED; MYELINATED NERVE; PATHOLOGY;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; BRAIN MAPPING; CHILD; DISEASE PROGRESSION; FEMALE; GLUTARATES; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; INFANT; LEUCINE; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NERVE FIBERS, MYELINATED;

EID: 77957241766     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181f39a8a     Document Type: Article

References (11)

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