Zobrazeno 1 - 7 of 7 pro vyhledávání: '"J L, Van Hove"'
1
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency
Autor: J L, Johnson, K E, Coyne, K V, Rajagopalan, J L, Van Hove, M, Mackay, J, Pitt, A, Boneh
Publikováno v: American journal of medical genetics. 104(2)
Molybdenum cofactor deficiency is a rare inborn error of metabolism with generally severe symptoms, most often including neonatal seizures and severe developmental delay. We describe a patient with an unusually mild form of the disease. Two mutations
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::965c2d605bb2c5796939b56ca6e0a680
https://pubmed.ncbi.nlm.nih.gov/11746050
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2
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
Autor: S, Grünewald, T, Imbach, K, Huijben, M E, Rubio-Gozalbo, A, Verrips, J B, de Klerk, H, Stroink, J F, de Rijk-van Andel, J L, Van Hove, U, Wendel, G, Matthijs, T, Hennet, J, Jaeken, R A, Wevers
Publikováno v: Annals of neurology. 47(6)
We report on 8 patients with a recently described novel subtype of congenital disorder of glycosylation type Ic (CDG-Ic). Their clinical presentation was mainly neurological with developmental retardation, muscular hypotonia, and epilepsy. Several sy
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ceb651b7d81f96e1a6348ade5d8a8d0d
https://pubmed.ncbi.nlm.nih.gov/10852543
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3
Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate
Autor: A, Ahmad, S G, Kahler, P S, Kishnani, M, Artigas-Lopez, A S, Pappu, R, Steiner, D S, Millington, J L, Van Hove
Publikováno v: American journal of medical genetics. 87(4)
A patient with severe pyruvate carboxylase deficiency presented at age 11 weeks with metabolic decompensation after routine immunization. She was comatose, had severe lactic acidemia (22 mM) and ketosis, low aspartate and glutamate, elevated citrulli
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1c4c0108f3c2f42c8cad100ead5bb82a
https://pubmed.ncbi.nlm.nih.gov/10588840
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4
[Treatment of Pompe's disease with recombinant enzymes]
Autor: J L, Van Hove
Publikováno v: Verhandelingen - Koninklijke Academie voor Geneeskunde van Belgie. 60(4)
Pompe disease is caused by the congenital deficiency of the lysosomal enzyme acid alpha-glucosidase. The accumulation of lysosomal glycogen results in a fatal myopathy and cardiomyopathy. We developed an enzyme replacement therapy based on recombinan
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::875f52db50783199cf8b692606ef8a14
https://pubmed.ncbi.nlm.nih.gov/9883081
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5
Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry
Autor: D H, Chace, S L, Hillman, J L, Van Hove, E W, Naylor
Publikováno v: Clinical chemistry. 43(11)
We report the application of tandem mass spectrometry to prospective newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. MCAD deficiency is diagnosed from dried blood spots on filter paper cards from newborns on the basis of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4431acd9c3b95f5e041d311b953bacf4
https://pubmed.ncbi.nlm.nih.gov/9365395
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