Last Posted: Sep 11, 2020
- Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
Carducci Carla et al. JIMD reports 2020 Sep 55(1) 59-67
- Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Wang Ting et al. Frontiers in genetics 2019 101052
- Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China.
Wang Xudong et al. Clinica chimica acta; international journal of clinical chemistry 2019 Aug
- Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients.
Li Nana et al. Journal of pediatric endocrinology & metabolism : JPEM 2018 Aug 31(8) 911-916
- Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
Chaiyasap Pongsathorn et al. BMC medical genetics 2017 Sep 18(1) 102
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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