Literature DB >> 7267240

New approaches to the diagnosis and treatment of inborn errors or urea synthesis.

M L Batshaw, G H Thomas, S W Brusilow.   

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Year:  1981        PMID： 7267240

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


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  7 in total

1.  Lethal ornithine transcarbamylase deficiency in a female neonate.

Authors:  N Girgis; V McGravey; B L Shah; J Herrin; V E Shih
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

2.  Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Authors:  Mendel Tuchman; Brendan Lee; Uta Lichter-Konecki; Marshall L Summar; Marc Yudkoff; Stephen D Cederbaum; Douglas S Kerr; George A Diaz; Margaretta R Seashore; Hye-Seung Lee; Robert J McCarter; Jeffrey P Krischer; Mark L Batshaw
Journal:  Mol Genet Metab       Date:  2008-06-17       Impact factor: 4.797

3.  Metabolite identification using a nanoelectrospray LC-EC-array-MS integrated system.

Authors:  Susan Schiavo; Erika Ebbel; Swati Sharma; Wayne Matson; Bruce S Kristal; Steven Hersch; Paul Vouros
Journal:  Anal Chem       Date:  2008-06-25       Impact factor: 6.986

4.  Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts.

Authors:  T S Su; H G Bock; A L Beaudet; W E O'Brien
Journal:  J Clin Invest       Date:  1982-12       Impact factor: 14.808

5.  Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy.

Authors:  S M Donn; J G Thoene
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

6.  Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.

Authors:  M Mokhtarani; G A Diaz; W Rhead; S A Berry; U Lichter-Konecki; A Feigenbaum; A Schulze; N Longo; J Bartley; W Berquist; R Gallagher; W Smith; S E McCandless; C Harding; D C Rockey; J M Vierling; P Mantry; M Ghabril; R S Brown; K Dickinson; T Moors; C Norris; D Coakley; D A Milikien; S C Nagamani; C Lemons; B Lee; B F Scharschmidt
Journal:  Mol Genet Metab       Date:  2013-10-08       Impact factor: 4.797

7.  Effect of single oral dose of sodium benzoate on ureagenesis in healthy men and two patients with late onset citrullinaemia.

Authors:  K Kubota; T Ishizaki
Journal:  Eur J Clin Pharmacol       Date:  1993       Impact factor: 2.953
  7 in total

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