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Journal Abstract Search

142 related items for PubMed ID: 27139199

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  • 3. Hydroxyprolinemia: comparison of a patient and her unaffected twin sister.
    Kim SZ, Varvogli L, Waisbren SE, Levy HL.
    J Pediatr; 1997 Mar; 130(3):437-41. PubMed ID: 9063421
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  • 4. Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline.
    Fingerhut R.
    Eur J Pediatr; 2009 May; 168(5):599-604. PubMed ID: 18682982
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  • 6. Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.
    la Marca G, Malvagia S, Pasquini E, Donati MA, Gasperini S, Procopio E, Zammarchi E.
    Rapid Commun Mass Spectrom; 2005 May; 19(6):863-4. PubMed ID: 15723447
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  • 7. HYDROXYPROLINEMIA. II. A RARE METABOLIC DISEASE DUE TO A DEFICIENCY OF THE ENZYME "HYDROXYPROLINE OXIDASE".
    EFRON ML, BIXBY EM, PRYLES CV.
    N Engl J Med; 1965 Jun 24; 272():1299-309. PubMed ID: 14299138
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  • 11. Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.
    Li X, Ding Y, Liu Y, Ma Y, Song J, Wang Q, Li M, Qin Y, Yang Y.
    Eur J Med Genet; 2015 Nov 24; 58(11):617-23. PubMed ID: 26453840
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  • 13. Proline dehydrogenase 2 (PRODH2) is a hydroxyproline dehydrogenase (HYPDH) and molecular target for treating primary hyperoxaluria.
    Summitt CB, Johnson LC, Jönsson TJ, Parsonage D, Holmes RP, Lowther WT.
    Biochem J; 2015 Mar 01; 466(2):273-81. PubMed ID: 25697095
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  • 14. Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.
    Couce ML, Ramos F, Bueno MA, Díaz J, Meavilla S, Bóveda MD, Fernández-Marmiesse A, García-Cazorla A.
    Eur J Paediatr Neurol; 2015 Nov 01; 19(6):652-9. PubMed ID: 26232051
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  • 15. Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease.
    Guo Y, Liming L, Jiang L.
    Metab Brain Dis; 2015 Dec 01; 30(6):1395-400. PubMed ID: 26239723
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  • 20. Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.
    Ali EZ, Yunus ZM, Desa NM, Hock NL.
    J Pediatr Endocrinol Metab; 2013 Dec 01; 26(9-10):975-80. PubMed ID: 23729548
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