Mild Phenylketonuria
What's New
Last Posted: Jan 28, 2023
- Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
Muntau Ania C, et al. The New England journal of medicine 2002 0 (26) 2122-32 - Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol Elise, et al. Orphanet journal of rare diseases 2015 0 (1) 158 - Mild phenylketonuria
From NCATS Genetic and Rare Diseases Information Center - Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.
Desviat Lourdes R, et al. Molecular genetics and metabolism 0 0 (1-2) 157-62
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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