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

Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis

(2016) Sven Potelle et al.   HUMAN MOLECULAR GENETICS

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

(2016) Lisa G. Riley et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

(2016) Karin Tuschl et al.   Nature Communications

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

(2015) Julien H. Park et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

(2015) Kym M. Boycott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Manganese Is Essential for Neuronal Health

(2015) Kyle J. Horning et al.   Annual Review of Nutrition

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach

(2015) K. Dörre et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Manganese homeostasis in the nervous system

(2015) Pan Chen et al.   JOURNAL OF NEUROCHEMISTRY

An approach for manganese biomonitoring using a manganese carrier switch in serum from transferrin to citrate at slightly elevated manganese concentration

(2015) B. Michalke et al.   JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

(2014) Laura C. Tegtmeyer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

(2013) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man

(2012) Karin Tuschl et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

(2012) François Foulquier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impact of Manganese on and Transfer across Blood-Brain and Blood-Cerebrospinal Fluid Barrierin Vitro

(2012) Julia Bornhorst et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Roles of ZIP8, ZIP14, and DMT1 in transport of cadmium and manganese in mouse kidney proximal tubule cells

(2012) Hitomi Fujishiro et al.   Metallomics

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

(2011) Samira Achouitar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib

(2008) Ylian S Liem et al.   Nature clinical practice. Gastroenterology & hepatology