Zobrazeno 1 - 10
of 23
pro vyhledávání: '"J. L. K. Van Hove"'
Autor:
C. D. Scheurer, J. L. K. Van Hove, Ronald J.A. Wanders, B. T. Poll-The, Peter G. Barth, Marinus Duran, Charles B. L. M. Majoie, A. M. Bams-Mengerink
Publikováno v:
Neurology, 66(6), 798-803; discussion 789. Lippincott Williams and Wilkins
Background: The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, cataracts, skeletal dysplasia causing disproportionate somatic growth failure, microcephaly, and severe psychomotor defects. Biochemic
Autor:
Ada Hamosh, Jennifer R. Toone, Julie Hoover-Fong, J. L. K. Van Hove, S. Shah, Derek A. Applegarth
Publikováno v:
Neurology. 63:1847-1853
Background: Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an autosomal recessive disorder caused by a defect in the glycine cleavage system. NKH is classically associated with neonatal apnea, lethargy, hypotonia, and seiz
Autor:
Rik Lories, M.T. Vanier, Gert Matthijs, Ph. Vandekerckhove, Frank P. Luyten, M.F. Vincent, Rene Westhovens, R. De Vos, P. Volders, J. L. K. Van Hove
Publikováno v:
American Journal of Medical Genetics. 109:42-51
We report here a unique case of a 55-year-old woman presenting with a clinical picture of Parkinson disease, severe back pain, splenomegaly, and pronounced dyspnea. Radiographic examination of the spine showed multiple vertebral fractures. Niemann-Pi
Publikováno v:
SSRN Electronic Journal.
This paper assesses the impact of Eurobonds on sovereign debt dynamics for selected European member states (Greece, Ireland and Portugal). For each member state, we produce sovereign debt fan charts of (i) a baseline scenario (no Eurobonds) and (ii)
Autor:
Michael D. Feezor, Michael J. Bennett, Steven L. Hillman, Dietrich Matern, M. Qumsiyeh, J. L. K. Van Hove, David S. Millington, Stephen G. Kahler, Yuan-Tsong Chen, Jianjun Shen
Publikováno v:
Journal of Inherited Metabolic Disease. 23:27-44
Mitochondrial fatty acid oxidation disorders cause hypoglycaemia, hepatic dysfunction, myopathy, cardiomyopathy and encephalopathy. Despite their recognition for more than 15 years, diagnosis and treatment remain difficult. To help design rational di
Autor:
J. L. K. Van Hove, F. Lazeyras, Linda Gray, H. C. Charles, Jaak Jaeken, T. Bottiglieri, Stephen G. Kahler, Steven H. Zeisel, K. Hyland
Publikováno v:
Journal of Inherited Metabolic Disease. 21:799-811
Non-ketotic hyperglycinaemia (NKH) is a rare, severe brain disease caused by deficient glycine cleavage enzyme complex activity resulting in elevated glycine concentrations. Recent experience suggests that factors in addition to glycine kinetics are
Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail
Autor:
Mark F. Pennybacker, J. L. K. Van Hove, M. Mizutani, Nobutsune Ichihara, H. W. Yang, Tateki Kikuchi, Yuan-Tsong Chen
Publikováno v:
Journal of Clinical Investigation. 101:827-833
Pompe disease is a fatal genetic muscle disorder caused by a deficiency of acid alpha-glucosidase (GAA), a glycogen degrading lysosomal enzyme. GAA-deficient (AMD) Japanese quails exhibit progressive myopathy and cannot lift their wings, fly, or righ
Autor:
A. Kaufman, Edward H. Bossen, Stephen G. Kahler, J. L. K. Van Hove, Priya S. Kishnani, John Shoffner
Publikováno v:
European Journal of Pediatrics. 155:898-903
The A to G point mutation at position 3243 of the mitochondrial DNA tRNALeu(UUR) gene is commonly found in patients with the syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). A male patient was referred at
Publikováno v:
Journal of Inherited Metabolic Disease. 18:299-305
Genetic deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC) is a rare inborn error of leucine metabolism producing an organic acidaemia. With accumulation of 3-methylcrotonyl-CoA, there is increased production of 3-hydroxyisovaleric acid, the glyc
Autor:
Lisbeth Birk Møller, Christiaan Klein, J. L. K. Van Hove, Nenad Blau, Eric Legius, D Goriounov, Paul Casaer, Katja Hedrich, Gert Matthijs, Jean Steyaert, A. Romstad, Paul Theys, Ron A. Wevers
Publikováno v:
Journal of Neurology, Neurosurgery, and Psychiatry, 77, 18-23
Journal of Neurology, Neurosurgery, and Psychiatry, 77, 1, pp. 18-23
Journal of Neurology, Neurosurgery, and Psychiatry, 77, 1, pp. 18-23
Contains fulltext : 49888.pdf (Publisher’s version ) (Closed access) BACKGROUND: Segawa syndrome due to GTP cyclohydrolase deficiency is an autosomal dominant disorder with variable expression, that is clinically characterised by l-dopa responsive,