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Items: 10

1.

Genetic causes of hypomagnesemia, a clinical overview.

Viering DHHM, de Baaij JHF, Walsh SB, Kleta R, Bockenhauer D.

Pediatr Nephrol. 2017 Jul;32(7):1123-1135. doi: 10.1007/s00467-016-3416-3. Epub 2016 May 27. Review.

2.

Interactions with the bifunctional interface of the transcriptional coactivator DCoH1 are kinetically regulated.

Wang D, Coco MW, Rose RB.

J Biol Chem. 2015 Feb 13;290(7):4319-29. doi: 10.1074/jbc.M114.616870. Epub 2014 Dec 23.

3.

LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway.

Arning E, Bottiglieri T.

JIMD Rep. 2016;29:1-9. Epub 2014 Sep 12. Erratum in: JIMD Rep. 2016;29:115.

4.

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

Ferrè S, de Baaij JH, Ferreira P, Germann R, de Klerk JB, Lavrijsen M, van Zeeland F, Venselaar H, Kluijtmans LA, Hoenderop JG, Bindels RJ.

J Am Soc Nephrol. 2014 Mar;25(3):574-86. doi: 10.1681/ASN.2013040337. Epub 2013 Nov 7.

5.

GCH1, BH4 and pain.

Latremoliere A, Costigan M.

Curr Pharm Biotechnol. 2011 Oct;12(10):1728-41. Review.

6.

A murine model for human sepiapterin-reductase deficiency.

Yang S, Lee YJ, Kim JM, Park S, Peris J, Laipis P, Park YS, Chung JH, Oh SP.

Am J Hum Genet. 2006 Apr;78(4):575-87. Epub 2006 Jan 31.

8.

Tetrahydrobiopterin biosynthesis, regeneration and functions.

Thöny B, Auerbach G, Blau N.

Biochem J. 2000 Apr 1;347 Pt 1:1-16. Review.

9.

Overexpression of pterin-4a-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 in human colon cancer.

Eskinazi R, Thöny B, Svoboda M, Robberecht P, Dassesse D, Heizmann CW, Van Laethem JL, Resibois A.

Am J Pathol. 1999 Oct;155(4):1105-13.

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