A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders

Journal of Inherited Metabolic Disease

Volumn 40, Issue 2, 2017, Pages 261-269

  Riley, Lisa G ^a,b   Cowley, Mark J ^c   Gayevskiy, Velimir ^c   Roscioli, Tony ^c,d,e   Thorburn, David R ^f,g   Prelog, Kristina ^a   Bahlo, Melanie ^g,h   Sue, Carolyn M ^c,i   Balasubramaniam, Shanti ^a,b   Christodoulou, John ^a,b,f,g  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

^d UNIVERSITY OF NEW SOUTH WALES   (Australia)

^e SYDNEY CHILDREN'S HOSPITAL   (Australia)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

^g UNIVERSITY OF MELBOURNE   (Australia)

^h WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

ⁱ ROYAL NORTH SHORE HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CARBIDOPA PLUS LEVODOPA; CIMETIDINE; CISAPRIDE; CITRATE SYNTHASE; CLOBAZAM; CYTOCHROME C OXIDASE; DICHLOROACETIC ACID; GALACTOSE; LAMOTRIGINE; MANGANESE; OMEPRAZOLE; PYRIDOXINE; PYRUVATE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); THIAMINE; TRANSFERRIN; UBIDECARENONE; UBIQUINOL CYTOCHROME C REDUCTASE; URIDINE; ZINC TRANSPORTER; CATION TRANSPORT PROTEIN; ZIP8 PROTEIN, HUMAN;

ADENOID HYPERTROPHY; ADENOIDECTOMY; ARTICLE; BASAL GANGLION; BLOOD GAS ANALYSIS; BONE DENSITOMETRY; BONE MINERAL; BRAIN ATROPHY; CASE REPORT; CENTRAL SLEEP APNEA SYNDROME; CEREBELLUM ATROPHY; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION; CONSANGUINEOUS MARRIAGE; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSTONIA; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; EPILEPTIC DISCHARGE; EVOKED BRAIN STEM AUDITORY RESPONSE; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; GASTROESOPHAGEAL REFLUX; GASTROSTOMY; GENETIC IDENTIFICATION; GESTATIONAL AGE; HOSPITAL ADMISSION; HUMAN; HYPOPLASIA; INTELLECTUAL IMPAIRMENT; INTERMITTENT STRABISMUS; KYPHOSCOLIOSIS; LATENT PERIOD; LEBANESE; LINKAGE ANALYSIS; MALE; MANGANESE DEFICIENCY; MINERAL SUPPLEMENTATION; MITOCHONDRIAL MEMBRANE; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUTRITIONAL DEFICIENCY; POINT MUTATION; PSYCHOMOTOR RETARDATION; RESPIRATORY CHAIN; SCOLIOSIS; SEIZURE; SHORT STATURE; SIBLING; SLEEP DISORDERED BREATHING; STOMACH FUNDOPLICATION; STRIDOR; TONSILLECTOMY; WHOLE GENOME SEQUENCING; DEFICIENCY; GENETIC VARIATION; GENETICS; GLYCOSYLATION; INFANT; LEIGH DISEASE;

CATION TRANSPORT PROTEINS; CHILD; CONGENITAL DISORDERS OF GLYCOSYLATION; FEMALE; GENETIC VARIATION; GLYCOSYLATION; HUMANS; INFANT; LEIGH DISEASE; MANGANESE; MITOCHONDRIAL DISEASES;

EID: 85006355164     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-016-0010-6     Document Type: Article

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