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- Santer, René
- Alluto, A 1
- Alpers, David H 1
- Amaryan, Gayane 1
- Badell, Isabel 1
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- Deutsch 7
7 Einträge gefunden
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Nephrolithiasis in a child with glucose-galactose malabsorption.
2004 - Forschungsinformationssystem des UKE -
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A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.
- Gordon, Marilyn M
- Brada, Nancy
- Remacha, Angel
- Badell, Isabel
- Elisabeth, Del Río
- Baiget, Montserrat
- Santer, René
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Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.
2004 - Forschungsinformationssystem des UKE -
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.
2004 - Forschungsinformationssystem des UKE -
The boy with massive glucosuria.
2004 - Forschungsinformationssystem des UKE -
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
- Ensenauer, Regina
- Vockley, Jerry
- Willard, Jan-Marie
- Huey, Joseph C
- Sass, Jörn Oliver
- Edland, Steven D
- Burton, Barbara K