Glutaric Acidemia Type I
What's New
Last Posted: Oct 23, 2020
- Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Miller Marcus J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Oct - Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population.
Lin Yiming et al. Clinica chimica acta; international journal of clinical chemistry 2019 Mar - Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Boy Nikolas et al. Journal of inherited metabolic disease 2016 Nov
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
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- Page last reviewed:Oct 1, 2020
- Page last updated:Dec 29, 2020
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