Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: Additional evidence of a brain phenotype

American Journal of Medical Genetics, Part A

Volumn 161, Issue 1, 2013, Pages 102-107

  Booij, Jan ^a   Reneman, Liesbeth ^a   Alders, Marielle ^a   Kuijpers, Taco W ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Attention; Dopamine; MRI; Shwachman Diamond syndrome; SPECT

Indexed keywords

DOPAMINE TRANSPORTER;

ADOLESCENT; ADULT; ANATOMICAL VARIATION; ARTICLE; BEHAVIOR DISORDER; BRAIN STEM; CEREBELLUM; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; CORPUS CALLOSUM; CORPUS STRIATUM; DOPAMINERGIC NERVE CELL; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; FEMALE; HUMAN; IMAGE ANALYSIS; IN VIVO STUDY; MALE; MOLECULAR IMAGING; NERVE ENDING; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN FUNCTION; SHWACHMAN SYNDROME; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; THALAMUS;

ADOLESCENT; ADULT; BONE MARROW DISEASES; BRAIN; CHILD; DOPAMINE; DOPAMINE PLASMA MEMBRANE TRANSPORT PROTEINS; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; HUMANS; LIPOMATOSIS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEOSTRIATUM; PHENOTYPE; PROTEINS; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON; YOUNG ADULT;

EID: 84871672188     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35687     Document Type: Article

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