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

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Elemental Ingredients in the Macrophage Cocktail: Role of ZIP8 in Host Response to Mycobacterium tuberculosis.Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).CDG Therapies: From Bench to Bedside.A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

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

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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name

SLC39A8 deficiency: biochemica ...... rovement by manganese therapy.

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SLC39A8 deficiency: biochemica ...... rovement by manganese therapy.

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type

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SLC39A8 deficiency: biochemica ...... rovement by manganese therapy.

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SLC39A8 deficiency: biochemica ...... rovement by manganese therapy.

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SLC39A8 deficiency: biochemica ...... rovement by manganese therapy.

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SLC39A8 deficiency: biochemica ...... rovement by manganese therapy.

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P1476

SLC39A8 deficiency: biochemica ...... rovement by manganese therapy.

@en

P2093

Barbara Fiedler

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Janine Reunert

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Konstantinos Tsiakas

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Manfred Fobker

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Marianne Grüneberg

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Max Hogrebe

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Renate Brackmann

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René Santer

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Stephan Rust

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Thorsten Marquardt

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P2860

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man

TMEM165 deficiency causes a congenital disorder of glycosylation

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

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

Manganese homeostasis in the nervous system

Recurrent Severe Infections Caused by a Novel Leukocyte Adhesion Deficiency

Proteomics. Tissue-based map of the human proteome

Manganese toxicity upon overexposure.

Leukocyte adhesion deficiency II: therapy and genetic defect.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

P2888

gim.2017.106

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259-268

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scholarly article

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10.1038/GIM.2017.106

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English

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Julien H Park

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2017-07-27T00:00:00Z

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28749473

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

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P2860

P2860

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

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