Variants in a Novel Epidermal Collagen Gene (COL29A1) Are Associated with Atopic Dermatitis (2007)
Cilla Söderhäll, Ingo Marenholz, Tamara Kerscher, Franz Rüschendorf, Jorge Esparza-Gordillo, Margitta Worm, ...
Atopic dermatitis (AD) is a common chronic inflammatory skin disorder and a major manifestation of allergic disease. AD typically presents in early childhood often preceding the onset of an allergic...
The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism
Gallardo, M. Esther, Desviat, Lourdes R., Rodríguez, José M., Esparza-Gordillo, Jorge, Pérez-Cerdá, Celia, Pérez, Belén, ...
3-Methylcrotonylglycinuria is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). The...
The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism
Gallardo, M. Esther, Desviat, Lourdes R., Rodríguez, José M., Esparza-Gordillo, Jorge, Pérez-Cerdá, Celia, Pérez, Belén, ...
3-Methylcrotonylglycinuria is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). The...
De Jorge, Elena Goicoechea, Harris, Claire L., Esparza-Gordillo, Jorge, Carreras, Luis, Arranz, Elena Aller, Garrido, Cynthia Abarrategui, ...
Hemolytic uremic syndrome (HUS) is an important cause of acute renal failure in children. Mutations in one or more genes encoding complement-regulatory proteins have been reported in approximately...
Variants in a Novel Epidermal Collagen Gene (COL29A1) Are Associated with Atopic Dermatitis
Söderhäll, Cilla, Marenholz, Ingo, Kerscher, Tamara, Rüschendorf, Franz, Esparza-Gordillo, Jorge, Worm, Margitta, ...
Atopic dermatitis (AD) is a common chronic inflammatory skin disorder and a major manifestation of allergic disease. AD typically presents in early childhood often preceding the onset of an allergic...