Cerebrotendinous Xanthomatosis
What's New
Last Posted: Jun 18, 2020
- Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots.
Hong Xinying et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun - Newborn screening for Cerebrotendinous Xanthomatosis is the Solution for Early Identification and Treatment.
DeBarber Andrea E et al. Journal of lipid research 2018 Aug - Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.
Arias M et al. Neurologia (Barcelona, Spain) 2019 May 34(4) 248-258 - Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method.
Bleyle Lisa et al. Molecular genetics and metabolism reports 2016 Jun 711-5
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Oct 1, 2020
- Page last updated:Dec 29, 2020
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