Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Warsha A. Kanhai"'
Autor:
Warsha A. Kanhai, Justin van Oostendorp, Silvy J. M. van Dooren, Martijn Kranendijk, Erwin E. W. Jansen, Eduard A. Struys, K. Michael Gibson, Matilde R. Fernandez, Senay Ozturk, Pascal Lennertz, Marjo S. van der Knaap, Emile Van Schaftingen, Gajja S. Salomons, Ana Pop
Publikováno v:
Human mutation, (2019)
Human mutation, 40(7), 975-982. Wiley-Liss Inc.
Human Mutation, 40(7), 975-982. Wiley-Liss Inc.
Pop, A, Struys, E A, Jansen, E E W, Fernandez, M R, Kanhai, W A, van Dooren, S J M, Ozturk, S, van Oostendorp, J, Lennertz, P, Kranendijk, M, van der Knaap, M S, Gibson, K M, van Schaftingen, E & Salomons, G S 2019, ' D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants ', Human Mutation, vol. 40, no. 7, pp. 975-982 . https://doi.org/10.1002/humu.23751
Pop, A, Struys, E A, Jansen, E E W, Fernandez, M R, Kanhai, W A, van Dooren, S J M, Ozturk, S, van Oostendorp, J, Lennertz, P, Kranendijk, M, van der Knaap, M S, Gibson, K M, van Schaftingen, E & Salomons, G S 2019, ' D-2-hydroxyglutaric aciduria Type I : Functional analysis of D2HGDH missense variants ', Human Mutation, vol. 40, no. 7, pp. 975-982 . https://doi.org/10.1002/humu.23751
Human mutation, Vol. 40, no. 7, p. 975-982 (2019)
Human Mutation
Human mutation, 40(7), 975-982. Wiley-Liss Inc.
Human Mutation, 40(7), 975-982. Wiley-Liss Inc.
Pop, A, Struys, E A, Jansen, E E W, Fernandez, M R, Kanhai, W A, van Dooren, S J M, Ozturk, S, van Oostendorp, J, Lennertz, P, Kranendijk, M, van der Knaap, M S, Gibson, K M, van Schaftingen, E & Salomons, G S 2019, ' D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants ', Human Mutation, vol. 40, no. 7, pp. 975-982 . https://doi.org/10.1002/humu.23751
Pop, A, Struys, E A, Jansen, E E W, Fernandez, M R, Kanhai, W A, van Dooren, S J M, Ozturk, S, van Oostendorp, J, Lennertz, P, Kranendijk, M, van der Knaap, M S, Gibson, K M, van Schaftingen, E & Salomons, G S 2019, ' D-2-hydroxyglutaric aciduria Type I : Functional analysis of D2HGDH missense variants ', Human Mutation, vol. 40, no. 7, pp. 975-982 . https://doi.org/10.1002/humu.23751
Human mutation, Vol. 40, no. 7, p. 975-982 (2019)
Human Mutation
D-2-hydroxyglutaric aciduria Type I (D-2-HGA Type I), a neurometabolic disorder with a broad clinical spectrum, is caused by recessive variants in the D2HGDH gene encoding D-2-hydroxyglutarate dehydrogenase (D-2-HGDH). We and others detected 42 poten
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13ccbcda49d69b344f311cdd44f807dc
https://hdl.handle.net/2078.1/216799
https://hdl.handle.net/2078.1/216799
Autor:
U. Holwerda, Desirée E.C. Smith, Gajja S. Salomons, J. G. Loeber, Warsha A. Kanhai, Ana Pop, P. C. J. I. Schielen, Saadet Mercimek-Mahmutoglu, M. Fernandez Ojeda
Publikováno v:
Mercimek-Mahmutoglu, S, Pop, A, Kanhai, W, Ojeda, M F, Holwerda, U, Smith, D E C, Loeber, J G, Schielen, P C J I & Salomons, G S 2016, ' A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene ', Gene, vol. 575, no. 1, pp. 127-131 . https://doi.org/10.1016/j.gene.2015.08.045
Gene, 575(1), 127-131. Elsevier
Gene, 575(1), 127-131. Elsevier
Background GAMT deficiency is an autosomal recessive disorder of creatine biosynthesis causing developmental delays or intellectual disability in untreated patients as a result of irreversible brain damage occurring prior to diagnosis. Normal neurode
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4210596e04a85b9402f44531abee98d5
https://doi.org/10.1016/j.gene.2015.08.045
https://doi.org/10.1016/j.gene.2015.08.045
Autor:
Gajja S. Salomons, Monique Williams, Natalie Weinhold, Luigi Palmieri, Eduard A. Struys, Ferdinando Palmieri, Warsha A. Kanhai, Ana Pop, Branka Polic, Erwin E.W. Jansen, Jean-Marc Nuoffer, Anna De Grassi, Anibh M. Das, Jose E. Abdenur, Areeg El-Gharbawy, Pasquale Scarcia, René Santer, Benjamin Nota, Matilde R. Fernandez Ojeda, Pascal Lennertz, Vito Porcelli, Magnus Monné, Silvy J.M. van Dooren, David Coman, Britton D Zuccarelli
Publikováno v:
Journal of Inherited Metabolic Disease
Pop, A, Williams, M, Struys, E A, Monné, M, Jansen, E E W, de Grassi, A, Kanhai, W A, Scarcia, P, Ojeda, M R F, Porcelli, V, van Dooren, S J M, Lennertz, P, Nota, B, Abdenur, J E, Coman, D, Das, A M, El-Gharbawy, A, Nuoffer, J M, Polic, B, Santer, R, Weinhold, N, Zuccarelli, B, Palmieri, F, Palmieri, L & Salomons, G S 2018, ' An overview of combined D-2-and L-2-hydroxyglutaric aciduria : functional analysis of CIC variants ', Journal of Inherited Metabolic Disease, vol. 41, no. 2, pp. 169-180 . https://doi.org/10.1007/s10545-017-0106-7
Journal of Inherited Metabolic Disease, 41(2), 169-180. Springer Netherlands
Pop, Ana; Williams, Monique; Struys, Eduard A.; Monné, Magnus; Jansen, Erwin E. W.; De Grassi, Anna; Kanhai, Warsha A.; Scarcia, Pasquale; Ojeda, Matilde R. Fernandez; Porcelli, Vito; van Dooren, Silvy J. M.; Lennertz, Pascal; Nota, Benjamin; Abdenur, Jose E.; Coman, David; Das, Anibh Martin; El-Gharbawy, Areeg; Nuoffer, Jean-Marc; Polic, Branka; Santer, René; ... (2018). An overview of combined D-2-and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. Journal of inherited metabolic disease, 41(2), pp. 169-180. Springer 10.1007/s10545-017-0106-7
Journal of inherited metabolic disease, 41(2), 169-180. Springer Netherlands
Pop, A, Williams, M, Struys, E A, Monné, M, Jansen, E E W, de Grassi, A, Kanhai, W A, Scarcia, P, Ojeda, M R F, Porcelli, V, van Dooren, S J M, Lennertz, P, Nota, B, Abdenur, J E, Coman, D, Das, A M, El-Gharbawy, A, Nuoffer, J M, Polic, B, Santer, R, Weinhold, N, Zuccarelli, B, Palmieri, F, Palmieri, L & Salomons, G S 2018, ' An overview of combined D-2-and L-2-hydroxyglutaric aciduria : functional analysis of CIC variants ', Journal of Inherited Metabolic Disease, vol. 41, no. 2, pp. 169-180 . https://doi.org/10.1007/s10545-017-0106-7
Journal of Inherited Metabolic Disease, 41(2), 169-180. Springer Netherlands
Pop, Ana; Williams, Monique; Struys, Eduard A.; Monné, Magnus; Jansen, Erwin E. W.; De Grassi, Anna; Kanhai, Warsha A.; Scarcia, Pasquale; Ojeda, Matilde R. Fernandez; Porcelli, Vito; van Dooren, Silvy J. M.; Lennertz, Pascal; Nota, Benjamin; Abdenur, Jose E.; Coman, David; Das, Anibh Martin; El-Gharbawy, Areeg; Nuoffer, Jean-Marc; Polic, Branka; Santer, René; ... (2018). An overview of combined D-2-and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. Journal of inherited metabolic disease, 41(2), pp. 169-180. Springer 10.1007/s10545-017-0106-7
Journal of inherited metabolic disease, 41(2), 169-180. Springer Netherlands
Combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA) is a devastating neurometabolic disorder, usually lethal in the first years of life. Autosomal recessive mutations in the SLC25A1 gene, which encodes the mitochondrial citrate carrier (CIC),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d793994797d6dcbb3199e8ae5600fd70
https://pubmed.ncbi.nlm.nih.gov/29238895
https://pubmed.ncbi.nlm.nih.gov/29238895
Autor:
Gajja S. Salomons, Cornelis Jakobs, Silvy J.M. van Dooren, Desirée E.C. Smith, Nandaja Anand, Cristina Martinez-Munoz, Warsha A. Kanhai, Joseph Ndika
Publikováno v:
Biochimica et Biophysica Acta (BBA)-General Subjects, 1840(6), 2070-2079. Elsevier
Ndika, J D T, Martinez-Munoz, C, Anand, N, van Dooren, S J M, Kanhai, W, Smith, D E C, Jakobs, C A J M & Salomons, G S 2014, ' Post-transcriptional regulation of the creatine transporter gene: Functional relevance of alternative splicing ', Biochimica et Biophysica Acta (BBA)-General Subjects, vol. 1840, no. 6, pp. 2070-2079 . https://doi.org/10.1016/j.bbagen.2014.02.012
Ndika, J D T, Martinez-Munoz, C, Anand, N, van Dooren, S J M, Kanhai, W, Smith, D E C, Jakobs, C A J M & Salomons, G S 2014, ' Post-transcriptional regulation of the creatine transporter gene: Functional relevance of alternative splicing ', Biochimica et Biophysica Acta (BBA)-General Subjects, vol. 1840, no. 6, pp. 2070-2079 . https://doi.org/10.1016/j.bbagen.2014.02.012
Background Aberrations in about 10–15% of X-chromosome genes account for intellectual disability (ID); with a prevalence of 1–3% (Gecz et al., 2009 [1]). The SLC6A8 gene, mapped to Xq28, encodes the creatine transporter (CTR1). Mutations in SLC6A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ebd551dbe4d197a690d49aa821d21b0
https://doi.org/10.1016/j.bbagen.2014.02.012
https://doi.org/10.1016/j.bbagen.2014.02.012
Autor:
Claudine Beaubrun, Gajja S. Salomons, Warsha A. Kanhai, Cornelis Jakobs, Joseph Ndika, Cristina Martinez-Munoz, Vera Lusink
Publikováno v:
Ndika, J D T, Lusink, V, Beaubrun, C, Kanhai, W, Martinez-Munoz, C, Jakobs, C A J M & Salomons, G S 2014, ' Cloning and characterization of the promoter regions from the parent and paralogobs creatine transporter genes ', Gene, vol. 533, no. 2, pp. 488-493 . https://doi.org/10.1016/j.gene.2013.10.008
Gene, 533(2), 488-493. Elsevier
Gene, 533(2), 488-493. Elsevier
Interconversion between phosphocreatine and creatine, catalyzed by creatine kinase is crucial in the supply of ATP to tissues with high energy demand. Creatine's importance has been established by its use as an ergogenic aid in sport, as well as the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66bde89f28c146009f8a0c69c59c46e2
https://doi.org/10.1016/j.gene.2013.10.008
https://doi.org/10.1016/j.gene.2013.10.008
Autor:
Peter Heutink, Ivo Barić, Chitra Prasad, Truus E.M. Abbink, Warsha A. Kanhai, Susan Blaser, Gajja S. Salomons, I. Bakker, Johannes Häberle, Nienke L. Postma, Marjo S. van der Knaap, Sietske H. Kevelam, Nicole I. Wolf, Quinten Waisfisz, Marianna Bugiani, Annette Feigenbaum
Publikováno v:
Brain, 136(5), 1534-1543. Oxford University Press
Kevelam, S H G, Bugiani, M, Salomons, G S, Feigenbaum, A, Blaser, S, Prasad, C, Haberle, J, Baric, I, Bakker, I M C, Postma, N L, Kanhai, W A, Wolf, N I, Abbink, G E M, Waisfisz, Q, Heutink, P & van der Knaap, M S 2013, ' Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy ', Brain, vol. 136, no. 5, pp. 1534-1543 . https://doi.org/10.1093/brain/awt054
Paediatrics Publications
Kevelam, S H G, Bugiani, M, Salomons, G S, Feigenbaum, A, Blaser, S, Prasad, C, Haberle, J, Baric, I, Bakker, I M C, Postma, N L, Kanhai, W A, Wolf, N I, Abbink, G E M, Waisfisz, Q, Heutink, P & van der Knaap, M S 2013, ' Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy ', Brain, vol. 136, no. 5, pp. 1534-1543 . https://doi.org/10.1093/brain/awt054
Paediatrics Publications
To accomplish a diagnosis in patients with a rare unclassified disorder is difficult. In this study, we used magnetic resonance imaging pattern recognition analysis to identify patients with the same novel heritable disorder. Whole-exome sequencing w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e1a0f701285e80056b37605fbbc75e2
https://doi.org/10.1093/brain/awt054
https://doi.org/10.1093/brain/awt054
Autor:
Cornelis L. Harteveld, Warsha A. Kanhai, Supawadee Yamsri, Marion Phylipsen, Egbert Bakker, Diahann T. S. L. Jansen, Supan Fucharoen, Emmely E. Treffers, Piero C. Giordano, Elles M. J. Boon
Publikováno v:
Prenatal Diagnosis. 32:578-587
Objective The aim of this study was to develop a pyrophosphorolysis-activated polymerization (PAP) assay for non-invasive prenatal diagnosis (NIPD) of β-thalassemia major and sickle-cell disease (SCD). PAP is able to detect mutations in free fetal D
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e2cd573430569cad950c78b62f24580
https://doi.org/10.1002/pd.3864
https://doi.org/10.1002/pd.3864
Autor:
O.T. Betsalel, Saadet Mercimek-Mahmutoglu, Graham Sinclair, Gajja S. Salomons, J. Nelson, Lawrence Sweetman, Warsha A. Kanhai, P. Ashcraft, S.J.M. van Dooren, C.A.J.M. Jakobs, O.J. Michel
Publikováno v:
Mercimek-Mahmutoglu, S, Sinclair, G, van Dooren, S J M, Kanhai, W, Ashcraft, P, Michel, O J, Nelson, J, Betsalel, O T, Sweetman, L, Jakobs, C A J M & Salomons, G S 2012, ' Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease ', Molecular Genetics and Metabolism, vol. 107, no. 3, pp. 433-437 . https://doi.org/10.1016/j.ymgme.2012.07.022
Molecular Genetics and Metabolism, 107(3), 433-437. Academic Press Inc.
Molecular Genetics and Metabolism, 107(3), 433-437. Academic Press Inc.
Background: GAMT deficiency is an autosomal recessive disorder of creatine biosynthesis resulting in severe neurological complications in untreated patients. Currently available treatment is only successful to stop disease progression, but is not suf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13a4b6961a0ae259bf8d42000a78defe
https://doi.org/10.1016/j.ymgme.2012.07.022
https://doi.org/10.1016/j.ymgme.2012.07.022
Autor:
Gajja S. Salomons, Cornelis Jakobs, Ana Pop, Aline Cano, Warsha A. Kanhai, Brigitte Chabrol, Mathieu Milh, Eduard A. Struys, Nathalie Villeneuve
Publikováno v:
Milh, M, Pop, A, Kanhai, W, Villeneuve, N, Cano, A, Struijs, E A, Salomons, G S, Chabrol, B & Jakobs, C A J M 2012, ' Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1 ', Molecular Genetics and Metabolism, vol. 105, no. 4, pp. 684-686 . https://doi.org/10.1016/j.ymgme.2012.01.011
Molecular Genetics and Metabolism, 105(4), 684-686. Academic Press Inc.
Molecular Genetics and Metabolism, 105(4), 684-686. Academic Press Inc.
We report two siblings with atypical pyridoxine-dependant epilepsy, modest elevation of biomarkers, in which the open reading frame and the splice sites of ALDH7A1 did not show any mutations. Subsequent genetic analysis revealed a deep homozygous int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29e742c2b8b4aff8384b19471f08a19c
https://doi.org/10.1016/j.ymgme.2012.01.011
https://doi.org/10.1016/j.ymgme.2012.01.011
Autor:
Laurence Lion-François, Vassili Valayannopoulos, Gajja S. Salomons, Yvonne M.C. Hendriks, Ernst Christensen, Thierry Billette de Villemeur, Floris C. Hofstede, Warsha A. Kanhai, Jessica A. Scott-Schwoerer, Joseph Ndika, Monique Williams, Helen Mundy, Miquel Raspall-Chaure, Vickie L. Hannig, Saadet Mercimek-Mahmutoglu, Allan M. Lund, Gaele Pitelet, David Cheillan, Katalin Szakszon, Nathalie Dorison
Publikováno v:
Mahmutoglu, S, Ndika, J D T, Kanhai, W, de Villemeur, T B, Cheillan, D, Christensen, E, Dorison, N, Hannig, V, Hendriks, Y M C, Hofstede, F C, Lion-Francois, L, Lund, A M, Mundy, H, Pitelet, G, Raspall-Chaure, M, Scott-Schwoerer, J A, Szakszon, K, Valayannopoulos, V, Williams, M & Salomons, G S 2014, ' Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene ', Human Mutation, vol. 35, no. 4, pp. 462-469 . https://doi.org/10.1002/humu.22511
Human Mutation
Human Mutation, Wiley, 2014, 35 (4), pp.462-9. ⟨10.1002/humu.22511⟩
Human Mutation, 35(4), 462-469. Wiley-Liss Inc.
Human Mutation
Human Mutation, Wiley, 2014, 35 (4), pp.462-9. ⟨10.1002/humu.22511⟩
Human Mutation, 35(4), 462-469. Wiley-Liss Inc.
International audience; Guanidinoacetate methyltransferase deficiency (GAMT-D) is an autosomal recessively inherited disorder of creatine biosynthesis. Creatine deficiency on cranial proton magnetic resonance spectroscopy, and elevated guanidinoaceta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79cae2fa620f08616c79b9cd8e5e56fb
https://research.vumc.nl/en/publications/63cbe33c-6b3f-4b13-9b21-489343ba1b7c
https://research.vumc.nl/en/publications/63cbe33c-6b3f-4b13-9b21-489343ba1b7c