Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome

Journal of Inherited Metabolic Disease

Volumn 37, Issue 3, 2014, Pages 415-420

  Sparks, S E ^a   Wassif, C A ^b   Goodwin, H ^b   Conley, S K ^b   Lanham, D C ^c   Kratz, L E ^c   Hyland, K ^d   Gropman, A ^e   Tierney, E ^c   Porter, F D ^b,f  

^a CAROLINAS MEDICAL CENTER   (United States)

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

^c KENNEDY KRIEGER INSTITUTE   (United States)

^d Medical Neurogenetics   (United States)

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

^f Center for Neuroscience Research Children's National Medical Center ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; CHOLESTEROL; HOMOVANILLIC ACID; SIMVASTATIN; TETRAHYDROBIOPTERIN;

ABERRANT BEHAVIOR CHECKLIST SCORE; ADOLESCENT; ADULT; ARTICLE; CEREBROSPINAL FLUID ANALYSIS; CEREBROSPINAL FLUID LEVEL; CHILD; CLINICAL ARTICLE; CLINICAL TRIAL (TOPIC); COHORT ANALYSIS; DISEASE ASSOCIATION; FEMALE; HUMAN; MALE; PRESCHOOL CHILD; SCHOOL CHILD; SCORING SYSTEM; SLOS ANATOMICAL SEVERITY SCORE; SMITH LEMLI OPITZ SYNDROME; SYNAPSE VESICLE; YOUNG ADULT; CEREBROSPINAL FLUID; CROSSOVER PROCEDURE; PATHOPHYSIOLOGY; PHYSIOLOGY;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; CROSS-OVER STUDIES; FEMALE; HOMOVANILLIC ACID; HUMANS; HYDROXYINDOLEACETIC ACID; MALE; SMITH-LEMLI-OPITZ SYNDROME; SYNAPTIC VESICLES;

EID: 84904185383     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9672-5     Document Type: Article

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