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Amino Acid Metabolism Inborn ErrorsDownload PDF containing detailed information.
Recent Publications on Amino Acid Metabolism Inborn Errors: |  |
Cerebellar hemorrhage in a patient with propionic acidemia.
Cerebellar hemorrhage (CH) is a well-known complication in newborns. Among... | 10th November, 2009
| Neurology and Metabolism Department, Hospital Sant Joan de Deu,
| Cerebellum. 2009 Sep;8(3):352-4. Epub 2009 May 26.
DOI Direct Link |
Metabolic and hemodynamic advantages of an acetate-free citrate dialysate in a uremic case of congenital methylmalonic acidemia.
Diaminopimelate (DAP) epimerase is a key enzyme for the biosynthesis of... | 3rd October, 2009
| Division of Nephrology, Department of Medicine, Jichi Medical University,
| Am J Kidney Dis. 2009 Oct;54(4):764-9. Epub 2009 Jul 4.
DOI Direct Link |
Fractional anisotropy for assessment of white matter tracts injury in methylmalonic acidemia.
BACKGROUND: Methylmalonic acidemia (MMA) is a multifactorial autosomal... | 3rd October, 2009
| Department of Radiology, Xinhua Hospital, Medical School of Shanghai Jiao
| Chin Med J (Engl). 2009 Apr 20;122(8):945-9.
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Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS).
Glutaric acidemia type 1 (GA1) is usually diagnosed with an accumulation... | 30th September, 2009
| Department of Pediatrics, Shimane University Faculty of Medicine, Izumo,
| J Chromatogr B Analyt Technol Biomed Life Sci. 2009 Sep 1;877(25):2648-51.
DOI Direct Link |
Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.
We report studies of six individuals with marked elevations of... | 12th September, 2009
| Department of Pediatrics, University of Colorado School of Medicine,
| Mol Genet Metab. 2009 Aug;97(4):250-9. Epub 2009 Apr 9.
DOI Direct Link |
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Wikipedia excerpt, where present, licenced under the GNU Free Documentation License. Resources from the NCBI applied. Selected MeSH subject headings created and maintained by the US NLM are used in conjunction with additional keywords. 2006-2008 MeSH.
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