Maple Syrup Urine Disease
What's New
Last Posted: Oct 13, 2022
- Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism.
Unsal Yagmur et al. Journal of pediatric endocrinology & metabolism : JPEM 2022 - Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
Magdy Rofaida M et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021 - Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.
Tang Chengfang et al. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2021 50(4) 463-471 - The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn Errors of Metabolism.
Bessey Alice et al. International journal of neonatal screening 2020 Nov 6(4) - Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Van Calcar S C et al. Molecular genetics and metabolism 2020 Oct - 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.
Stroek Kevin et al. JIMD reports 2020 Jul 54(1) 68-78 - 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?
Chokoshvili Davit et al. Prenatal diagnosis 2018 38(1) 59-66 - Local Coverage Determination (LCD): Biomarkers Overview (L35062)
The U.S. Centers for Medicare & Medicaid Services - Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.
Hassan Fayza A et al. Journal of medical screening 2016 Sep 23(3) 124-9 - Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.
Osara Yetsa et al. Orphanet journal of rare diseases 2017 Jul 12(1) 132 - Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country.
De Castro-Hamoy Leniza G et al. Journal of community genetics 2016 Oct - Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population.
Kuhl Ashley et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug - An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
Thiboonboon Kittiphong et al. PLoS ONE 10(8) e0134782 - Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
- Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
- Maple syrup urine disease
From NCATS Genetic and Rare Diseases Information Center - Maple syrup urine disease type 1A
From NCATS Genetic and Rare Diseases Information Center - Maple syrup urine disease type 1B
From NCATS Genetic and Rare Diseases Information Center - Maple syrup urine disease type 2
From NCATS Genetic and Rare Diseases Information Center
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