Multiple Carboxylase Deficiency
What's New
Last Posted: Feb 27, 2023
- Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients.
Xiong Zihong, et al. Medicine 2020 0 (18) e19964 - Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Tammachote R, et al. Clinical genetics 2010 0 (1) 88-93 - A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Balachander Kannan et al. Journal of pediatric genetics 2023 12(1) 1-15 - 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 - Multiple carboxylase deficiency
From NCATS Genetic and Rare Diseases Information Center
Content Summary
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
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 29, 2023
- Content source: