Carnitine-acylcarnitine Translocase Deficiency
Last Posted: Oct 10, 2019
- 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
- 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
- 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
- Carnitine-acylcarnitine translocase deficiency
From NCATS Genetic and Rare Diseases Information Center
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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