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6. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Schulze A; Lindner M; Kohlmüller D; Olgemöller K; Mayatepek E; Hoffmann GF Pediatrics; 2003 Jun; 111(6 Pt 1):1399-406. PubMed ID: 12777559 [TBL] [Abstract][Full Text] [Related]
7. New approaches to the diagnosis and treatment of inborn errors or urea synthesis. Batshaw ML; Thomas GH; Brusilow SW Pediatrics; 1981 Aug; 68(2):290-7. PubMed ID: 7267240 [No Abstract] [Full Text] [Related]
8. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Posset R; Garcia-Cazorla A; Valayannopoulos V; Teles EL; Dionisi-Vici C; Brassier A; Burlina AB; Burgard P; Cortès-Saladelafont E; Dobbelaere D; Couce ML; Sykut-Cegielska J; Häberle J; Lund AM; Chakrapani A; Schiff M; Walter JH; Zeman J; Vara R; Kölker S; J Inherit Metab Dis; 2016 Sep; 39(5):661-672. PubMed ID: 27106216 [TBL] [Abstract][Full Text] [Related]
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17. Lysinuric protein intolerance. Simell O; Perheentupa J; Rapola J; Visakorpi JK; Eskelin LE Am J Med; 1975 Aug; 59(2):229-40. PubMed ID: 1155480 [TBL] [Abstract][Full Text] [Related]
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20. Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy. Widhalm K; Koch S; Scheibenreiter S; Knoll E; Colombo JP; Bachmann C; Thalhammer O Pediatrics; 1992 Jun; 89(6 Pt 2):1182-4. PubMed ID: 1594374 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]