SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy. (Q48583701)

http://europepmc.org/abstract/MED/28749473

13 February 2018

title

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

1 reference

http://europepmc.org/abstract/MED/28749473

13 February 2018

author

Julien H Park

1

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6 June 2020

author name string

Max Hogrebe

2

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6 June 2020

Manfred Fobker

3

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6 June 2020

Renate Brackmann

4

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6 June 2020

Barbara Fiedler

5

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6 June 2020

Janine Reunert

6

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6 June 2020

Stephan Rust

7

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6 June 2020

Konstantinos Tsiakas

8

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6 June 2020

René Santer

9

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6 June 2020

Marianne Grüneberg

10

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6 June 2020

Thorsten Marquardt

11

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6 June 2020

language of work or name

English

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publication date

27 July 2017

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http://europepmc.org/abstract/MED/28749473

13 February 2018

published in

Genetics in Medicine

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6 June 2020

volume

20

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6 June 2020

page(s)

259-268

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issue

2

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https://scigraph.springernature.com/pub.10.1038/gim.2017.106

6 June 2020

exact match

0 references

cites work

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

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

21 January 2018

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Manganese homeostasis in the nervous system

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Manganese in health and disease

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Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

21 January 2018

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

21 January 2018

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

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Manganese toxicity upon overexposure

21 January 2018

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

21 January 2018

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

21 January 2018

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

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

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Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency

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Leukocyte adhesion deficiency II: therapy and genetic defect

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Multiple phenotypes in phosphoglucomutase 1 deficiency

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News on Clinical Details and Treatment in PGM1-CDG

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Impact of manganese on and transfer across blood-brain and blood-cerebrospinal fluid barrier in vitro.

21 January 2018

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Manganese transport across the blood-brain barrier: relationship to iron homeostasis.

21 January 2018

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Manganese distribution across the blood-brain barrier. I. Evidence for carrier-mediated influx of managanese citrate as well as manganese and manganese transferrin

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

21 January 2018

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Manganese Is Essential for Neuronal Health

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Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.

21 January 2018

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TMEM165 deficiency causes a congenital disorder of glycosylation

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TMEM165 Deficiency: Postnatal Changes in Glycosylation

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

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Brain metal concentrations in chronic liver failure patients with pallidal T1 MRI hyperintensity.

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Nutritional aspects of manganese homeostasis.

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Manganese Metabolism and Its Function1

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7 January 2021

Submicromolar manganese dependence of Golgi vesicular galactosyltransferase (lactose synthetase)

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https://api.crossref.org/works/10.1038%2FGIM.2017.106

7 January 2021

Manganese and selenium concentrations in cerebrospinal fluid of seriously ill children.

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https://api.crossref.org/works/10.1038%2FGIM.2017.106

7 January 2021

Manganese balance and clinical observations in young men fed a manganese-deficient diet

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https://api.crossref.org/works/10.1038%2FGIM.2017.106

7 January 2021

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

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7 January 2021

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

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7 January 2021

Correction of leukocyte adhesion deficiency type II with oral fucose

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PubMed

https://pubmed.ncbi.nlm.nih.gov/28749473

12 December 2020

inferred from PubMed ID database lookup

Manganese encephalopathy: utility of early magnetic resonance imaging

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28749473

12 December 2020

inferred from PubMed ID database lookup

Metal ion activation of galactosyltransferase

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28749473

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/GIM.2017.106

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28749473%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

1 reference