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Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JB, Lehnert W, Leonard JV, Monavari AA, Müller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E. Hoffmann GF, et al. Among authors: de klerk jb. Neuropediatrics. 1996 Jun;27(3):115-23. doi: 10.1055/s-2007-973761. Neuropediatrics. 1996. PMID: 8837070
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.
Grünewald S, Imbach T, Huijben K, Rubio-Gozalbo ME, Verrips A, de Klerk JB, Stroink H, de Rijk-van Andel JF, Van Hove JL, Wendel U, Matthijs G, Hennet T, Jaeken J, Wevers RA. Grünewald S, et al. Among authors: de klerk jb, de rijk van andel jf. Ann Neurol. 2000 Jun;47(6):776-81. Ann Neurol. 2000. PMID: 10852543
Glutaric aciduria type I: ultrasonographic demonstration of early signs.
Forstner R, Hoffmann GF, Gassner I, Heideman P, De Klerk JB, Lawrenz-Wolf B, Doringer E, Weiss-Wichert P, Tröger J, Colombo JP, Plöchl E. Forstner R, et al. Among authors: de klerk jb. Pediatr Radiol. 1999 Feb;29(2):138-43. doi: 10.1007/s002470050558. Pediatr Radiol. 1999. PMID: 9933336 Clinical Trial.
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
Imbach T, Grünewald S, Schenk B, Burda P, Schollen E, Wevers RA, Jaeken J, de Klerk JB, Berger EG, Matthijs G, Aebi M, Hennet T. Imbach T, et al. Among authors: de klerk jb. Hum Genet. 2000 May;106(5):538-45. doi: 10.1007/s004390000293. Hum Genet. 2000. PMID: 10914684
75 results