Medium-chain Acyl-coenzyme A Dehydrogenase Deficiency
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Last Posted: Mar 03, 2023
- Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population.
Li Yanhan, et al. Pediatrics international : official journal of the Japan Pediatric Society 2019 0 (6) 551-557 - Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China.
Tian Yuan, et al. Clinica chimica acta; international journal of clinical chemistry 2022 0 155-161 - Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening.
Mütze Ulrike et al. European journal of pediatrics 2022 - Expanded newborn metabolic screening programme in Hong Kong: a three-year journey.
Chong S C et al. Hong Kong medical journal = Xianggang yi xue za zhi 2017 Sep - 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Bentler Kristi et al. Molecular genetics and metabolism 2016 Jul - Medium-chain acyl-coenzyme A dehydrogenase deficiency
From NCATS Genetic and Rare Diseases Information Center - Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
Wilcken Bridget, et al. The New England journal of medicine 2003 6 (23) 2304-12
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
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- Fragile X Syndrome
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- Microcephaly
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- Phenylketonuria
- Retinitis Pigmentosa
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