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Items: 2

1.

Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency.

Verhoeven NM, Schor DS, Roos B, Battini R, Stöckler-Ipsiroglu S, Salomons GS, Jakobs C.

Clin Chem. 2003 May;49(5):803-5. No abstract available.

2.

Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).

Goh DL, Patel A, Thomas GH, Salomons GS, Schor DS, Jakobs C, Geraghty MT.

Mol Genet Metab. 2002 Jul;76(3):172-80.

PMID:
12126930

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