Research challenges in central nervous system manifestations of inborn errors of metabolism

Molecular Genetics and Metabolism

Volumn 102, Issue 3, 2011, Pages 326-338

  Dickson, P I ^a   Pariser, A R ^b   Groft, S C ^c   Ishihara, R W ^b   McNeil, D E ^b   Tagle, D ^d   Griebel, D J ^b   Kaler, S G ^e   Mink, J W ^f   Shapiro, E G ^g   Bjoraker, K J ^h   Krivitzky, L ⁱ   Provenzale, J M ^j   Gropman, A ^k   Orchard, P ^l   Raymond, G ^m   Cohen, B H ⁿ   Steiner, R D ^o   Goldkind, S F ^b   Nelson, R M ^b   Kakkis, E ^p   Patterson, M C ^q   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CENTER FOR DRUG EVALUATION AND RESEARCH   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^e EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^f UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^g UNIVERSITY OF MINNESOTA   (United States)

^h CHILDREN S HOSPITAL   (United States)

ⁱ NATIONAL REHABILITATION HOSPITAL   (United States)

^j DUKE UNIVERSITY MEDICAL CENTER   (United States)

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

^l UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^m JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁿ LERNER RESEARCH INSTITUTE   (United States)

^o OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^p Kakkis EveryLife Foundation for Rare Diseases   (United States)

^q MAYO CLINIC   (United States)

more..

Author keywords

Central nervous system; Inborn errors of metabolism; Orphan drug designation; Rare disease; Translational research

Indexed keywords

ADRENOLEUKODYSTROPHY; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL TRIAL (TOPIC); DEGENERATIVE DISEASE; ETHICS; HUMAN; INBORN ERROR OF METABOLISM; LIPOFUSCINOSIS; LYSOSOME STORAGE DISEASE; MAPLE SYRUP URINE DISEASE; MEDICAL RESEARCH; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PHENYLKETONURIA; PRIORITY JOURNAL; REVIEW; SYMPTOM;

ANIMALS; BIOMEDICAL RESEARCH; CENTRAL NERVOUS SYSTEM; CLINICAL TRIALS AS TOPIC; HUMANS; METABOLISM, INBORN ERRORS; RARE DISEASES;

EID: 79851510629     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.11.164     Document Type: Review

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