citations for ANT defect

[Guest guest]

If anyone is interested, here are three citations of case histories

involving ANT defects. Most other papers on ANT relate to animal studies

rather than clinical data.

Jordens

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A

bstract&list_uids=12112053&query_hl=3> EZ, Palmieri L, Huizing M, van den

Heuvel LP, Sengers RC, Dorner A, Ruitenbeek W, Trijbels FJ, Valsson J,

Sigfusson G, Palmieri F, Smeitink JA.

Adenine nucleotide translocator 1 deficiency associated with Sengers

syndrome.

Ann Neurol. 2002 Jul;52(1):95-9.

PMID: 12112053 [PubMed - indexed for MEDLINE]

Bakker

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A

bstract&list_uids=8479824&query_hl=1> HD, Scholte HR, Van den Bogert C,

Ruitenbeek W, Jeneson JA, Wanders RJ, Abeling NG, Dorland B, Sengers RC, Van

Gennip AH.

Deficiency of the adenine nucleotide translocator in muscle of a patient

with myopathy and lactic acidosis: a new mitochondrial defect.

Pediatr Res. 1993 Apr;33(4 Pt 1):412-7.

PMID: 8479824 [PubMed - indexed for MEDLINE]

Bakker

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A

bstract&list_uids=7609449&query_hl=1> HD, Scholte HR, Van den Bogert C,

Jeneson JA, Ruitenbeek W, Wanders RJ, Abeling NG, van Gennip AH.

Adenine nucleotide translocator deficiency in muscle: potential therapeutic

value of vitamin E.

J Inherit Metab Dis. 1993;16(3):548-52. No abstract available.

PMID: 7609449 [PubMed - indexed for MEDLINE]