Maple Syrup Urine Disease
Last Posted: Dec 01, 2020
- The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn Errors of Metabolism.
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- Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
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- Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.
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- Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
Mohamed Sarar et al. Saudi medical journal 2020 Jul 41(7) 703-708
- Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Pode-Shakked Naomi et al. European journal of medical genetics 2020 Mar 103901
- Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.
Bower Alexandra et al. Scientific reports 2019 Oct 9(1) 14098
- Individualized diets help patients with inherited metabolic disorders
S Rosen Mayo Clinic, Individualized Medicine Blog, October 4,2019
- Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
David Jan et al. Central European journal of public health 2019 Jun 27(2) 153-159
- Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.
Vieira Taiane Alves et al. Genetics and molecular biology 2019 Jun
- Expanded carrier screening for monogenic disorders: where are we now?
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