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Items: 9

1.

Amish microcephaly: Long-term survival and biochemical characterization.

Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA.

Am J Med Genet A. 2010 Jul;152A(7):1747-51. doi: 10.1002/ajmg.a.33373.

PMID:
20583149
2.

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

Spiegel R, Shaag A, Edvardson S, Mandel H, Stepensky P, Shalev SA, Horovitz Y, Pines O, Elpeleg O.

Ann Neurol. 2009 Sep;66(3):419-24. doi: 10.1002/ana.21752.

PMID:
19798730
3.

Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome.

van Bever Y, Balemans W, Duval EL, Jespers A, Eyskens F, van Hul W, Courtens W.

Am J Med Genet A. 2007 Apr 1;143A(7):763-7. No abstract available.

PMID:
17343268
4.

Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia.

Lindhurst MJ, Fiermonte G, Song S, Struys E, De Leonardis F, Schwartzberg PL, Chen A, Castegna A, Verhoeven N, Mathews CK, Palmieri F, Biesecker LG.

Proc Natl Acad Sci U S A. 2006 Oct 24;103(43):15927-32. Epub 2006 Oct 11.

5.

Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.

Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH.

Am J Med Genet. 2002 Nov 1;112(4):318-26.

PMID:
12376931
6.

Mutant deoxynucleotide carrier is associated with congenital microcephaly.

Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schäffer AA, Biesecker LG.

Nat Genet. 2002 Sep;32(1):175-9. Epub 2002 Aug 19.

PMID:
12185364
7.

Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC).

Iacobazzi V, Ventura M, Fiermonte G, Prezioso G, Rocchi M, Palmieri F.

Cytogenet Cell Genet. 2001;93(1-2):40-2.

PMID:
11474176
8.

The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals.

Dolce V, Fiermonte G, Runswick MJ, Palmieri F, Walker JE.

Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2284-8. Epub 2001 Feb 20.

9.

2-ketoglutarate dehydrogenase deficiency with intermittent 2-ketoglutaric aciduria.

Dunckelmann RJ, Ebinger F, Schulze A, Wanders RJ, Rating D, Mayatepek E.

Neuropediatrics. 2000 Feb;31(1):35-8.

PMID:
10774994

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