SLC39A8 deficiency: Biochemical correction and major clinical improvement by manganese therapy

Genetics in Medicine

Volumn 20, Issue 2, 2018, Pages 259-268

  Park, Julien H ^a   Hogrebe, Max ^a   Fobker, Manfred ^a   Brackmann, Renate ^b   Fiedler, Barbara ^a   Reunert, Janine ^a   Rust, Stephan ^a   Tsiakas, Konstantinos ^c   Santer, René ^c   Grüneberg, Marianne ^a   Marquardt, Thorsten ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b KLINIKUM MINDEN   (Germany)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Congenital disorder of glycosylation; Manganese; Parkinsonism; Therapy

Indexed keywords

ALKALINE PHOSPHATASE; HYPOXANTHINE; MANGANESE; MANGANESE SULFATE; TRANSFERRIN; BIOLOGICAL MARKER; CATION TRANSPORT PROTEIN; ZIP8 PROTEIN, HUMAN;

ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; ANALYTICAL PARAMETERS; ARTICLE; CASE REPORT; CLINICAL ARTICLE; FEMALE; GOOD GENERAL CONDITION; HEARING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPSARRHYTHMIA; INBORN ERROR OF METABOLISM; INFANT; JUVENILE SEIZURE; MANGANESE BLOOD LEVEL; MANGANESE CEREBROSPINAL FLUID LEVEL; MANGANESE URINE LEVEL; MOTOR ACTIVITY; MUSCLE STRENGTH; NUCLEAR MAGNETIC RESONANCE IMAGING; PROTEIN GLYCOSYLATION; SEIZURE; SIDE EFFECT; SLC39A8 DEFICIENCY; SUPPLEMENTATION; VISION; YOUNG ADULT; ALLELE; DEFICIENCY; DIETARY SUPPLEMENT; DRUG EFFECT; ELECTROENCEPHALOGRAPHY; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GLYCOSYLATION; MUTATION; PHENOTYPE; PROCEDURES; TREATMENT OUTCOME;

ALLELES; BIOMARKERS; CATION TRANSPORT PROTEINS; DIETARY SUPPLEMENTS; ELECTROENCEPHALOGRAPHY; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GLYCOSYLATION; HUMANS; MAGNETIC RESONANCE IMAGING; MANGANESE; MUTATION; PHENOTYPE; TREATMENT OUTCOME;

EID: 85042483801     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.106     Document Type: Article

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