Guanidinoacetate Methyltransferase Deficiency
What's New
Last Posted: Jul 27, 2023
- Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening.
Margie A Ream et al. Pediatrics 2023 - Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Khaikin Yannay, et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018 0 (3) 369-379 - Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
Desroches Caro-Lyne, et al. Molecular genetics and genomics : MGG 2015 5 - Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.
Mercimek-Mahmutoglu S, et al. Molecular genetics and metabolism 2012 8 - Guanidinoacetate methyltransferase 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
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- Page last reviewed:Feb 1, 2024
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