L W Klomp
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Explore the profile of L W Klomp including associated specialties, affiliations and a list of published articles.
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20
Citations
979
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Recent Articles
1.
Tabatabaie L, Klomp L, Berger R, de Koning T
Mol Genet Metab
. 2009 Dec;
99(3):256-62.
PMID: 19963421
The de novo synthesis of the amino acid L-serine plays an essential role in the development and functioning of the central nervous system (CNS). L-serine displays many metabolic functions during...
2.
Aldenhoven M, Klomp L, van Hasselt P, de Koning T, Visser G
Ned Tijdschr Geneeskd
. 2007 Nov;
151(41):2266-70.
PMID: 17987894
Menkes disease is an X-linked recessive disorder characterized by neurological deterioration, failure to thrive, peculiar hair and death in childhood, secondary to mutations in the ATP7A gene. The ATP7A gene...
3.
van Mil S, Klomp L, Bull L, Houwen R
Semin Liver Dis
. 2001 Dec;
21(4):535-44.
PMID: 11745041
FIC1 disease collectively refers to a group of autosomal-recessive familial liver disorders characterized by intrahepatic cholestasis due to mutations in the ATP8B1 gene (initially named FIC1). Classically, FIC1 disease comprises...
4.
Eppens E, van Mil S, de Vree J, Mok K, Juijn J, Oude Elferink R, et al.
J Hepatol
. 2001 Oct;
35(4):436-43.
PMID: 11682026
Background/aims: FIC1 (familial intrahepatic cholestasis 1) is affected in two clinically distinct forms of hereditary cholestasis, namely progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis. Here...
5.
Klomp L, Bull L, Knisely A, van Der Doelen M, Juijn J, Berger R, et al.
Hepatology
. 2000 Nov;
32(6):1337-41.
PMID: 11093741
Greenland familial cholestasis is a severe form of intrahepatic cholestasis described among indigenous Inuit families in Greenland. Patients present with jaundice, pruritus, bleeding episodes, and steatorrhea, and die in childhood...
6.
Klomp L, de Koning T, Malingre H, van Beurden E, Brink M, Opdam F, et al.
Am J Hum Genet
. 2000 Oct;
67(6):1389-99.
PMID: 11055895
3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures. To investigate the molecular basis for this disorder, the PHGDH...
7.
Hamza I, Klomp L, Gaedigk R, White R, Gitlin J
Genomics
. 2000 Feb;
63(2):294-7.
PMID: 10673341
Copper trafficking in eukaryotes involves small proteins termed metallochaperones, which mediate copper delivery to specific intracellular sites. Previous studies in yeast and human cell lines have suggested that Atox1 plays...
8.
Hamza I, Schaefer M, Klomp L, Gitlin J
Proc Natl Acad Sci U S A
. 1999 Nov;
96(23):13363-8.
PMID: 10557326
The delivery of copper to specific sites within the cell is mediated by distinct intracellular carrier proteins termed copper chaperones. Previous studies in Saccharomyces cerevisiae suggested that the human copper...
9.
Bull L, Juijn J, Liao M, Van Eijk M, Sinke R, Stricker N, et al.
Hum Genet
. 1999 May;
104(3):241-8.
PMID: 10323248
Loci for two inherited liver diseases, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic cholestasis type 1 (PFIC1), have previously been mapped to 18q21 by a search for shared...
10.
Culotta V, Lin S, Schmidt P, Klomp L, Casareno R, Gitlin J
Adv Exp Med Biol
. 1999 Mar;
448:247-54.
PMID: 10079832
In the bakers yeast S. cerevisiae, there at least four intracellular targets requiring copper ions-1) Ccc2p and Fet3p in the secretory pathway (homologues to Menkes/Wilson proteins and ceruloplasmin); 2) cytochrome...