Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-017-0083-x/fulltext.html
Reference37 articles.
1. Aoki K, Wada Y (1988) Outcome of the patients detected by newborn screening in Japan. Acta Paediatr Jpn Overseas Ed 30:429–434
2. Barshop BA, Khanna A (2005) Domino hepatic transplantation in maple syrup urine disease. N Engl J Med 353:2410–2411. https://doi.org/10.1056/NEJM200512013532220
3. Bouchereau J, Leduc-Leballeur J, Pichard S et al (2017) Neurocognitive profiles in MSUD school-age patients. J Inherit Metab Dis. https://doi.org/10.1007/s10545-017-0033-7
4. Clow CL, Reade TM, Scriver CR (1981) Outcome of early and long-term management of classical maple syrup urine disease. Pediatrics 68:856–862
5. Couce ML, Ramos F, Bueno MA et al (2015) Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis. Eur J Paediatr Neurol 19:652–659. https://doi.org/10.1016/j.ejpn.2015.07.009
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