Molecular picture of cobalamin C/D defects before and after newborn screening era

Autor: Célia Nogueira, H. Rocha, Helena Fonseca, Carla Valongo, Ana Marcão, Laura Vilarinho, Carmen Sousa

Objective Birth prevalence of Cobalamin (Cbl) C or D defects in Portugal is an estimated 1:85,000, one of the highest worldwide. We compared the genotype/phenotype of patients identified with CblC or CblD before and after the implementation of expand

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d598ed1d200fcbb4a2502f0df95eb685
https://hdl.handle.net/10400.18/4705

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

Autor: David Cheillan, Stella De Man, Suzanna G.M. Frints, Antonia Ribes Rubio, HATEM AZZOUZ, Klary E Niezen-Koning, Efraim Rosenberg, Carla Valongo, Sarina Kant, KATRIN OUNAP

Publikováno v: Molecular Genetics and Metabolism, 105(4), 596-601. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 105(4), 596-601. Academic Press Inc.
Molecular Genetics and Metabolism, 105, 596-601
Betsalel, O T, Pop, A, Rosenberg, E H, Fernandez-Ojeda, M, Jakobs, C A J M & Salomons, G S 2012, ' Detection of variants in SLC6A8 and functional analysis of unclassified missense variants ', Molecular Genetics and Metabolism, vol. 105, no. 4, pp. 596-601 . https://doi.org/10.1016/j.ymgme.2011.12.022
Molecular Genetics and Metabolism, 105, 4, pp. 596-601

Item does not contain fulltext Creatine transporter deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. Currently, 38 pathogenic, including 15 missense variants, are reported. In this study, we report 33 novel, including 6 miss

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc9ae52f281961e053d3c517781e1147
https://cris.maastrichtuniversity.nl/en/publications/d080454e-26b4-4a1a-a10c-7b27ead35fbc

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport

Autor: Carla Valongo, Lígia S. Almeida, Gajja S. Salomons, Nanda M. Verhoeven, Cornelis Jakobs, Maria Luís Cardoso, Laura Vilarinho, Birthe Roos

Publikováno v: Molecular Genetics and Metabolism. 82:214-219

In this study, measurements of guanidinoacetate (GAA) and creatine (Cr) in urine, plasma, and cerebrospinal fluid (CSF) were performed using stable isotope dilution gas chromatography-mass spectrometry. Both compounds were analyzed in a single analys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f12a8529bfa189be33052ea4daa28db3
https://doi.org/10.1016/j.ymgme.2004.05.001

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Autor: Joy Yaplito-Lee, Charles E. Schwartz, S Waltz, Katrin Õunap, S Mercimek-Mahmutoglu, Marie-Cécile Nassogne, Luísa Diogo, Hitoshi Osaka, Stephanie Grunewald, Carla Valongo, A Schulze, Marc D'Hooghe, A. Errami, I Poggenburg, Nicola K. Poplawski, F Hofstede, Hanne Meijers-Heijboer, C. Jakobs, Yves Sznajer, Angela Arias, Bridget Wilcken, H Azzouz, Suzanna G.M. Frints, A.P.M. de Brouwer, Gajja S. Salomons, M.S. van der Knaap, Diana Johnson, Tjitske Kleefstra, Antonia Ribes, M. A. Vilaseca, S Schwenger, JM Pinard, Grazia M.S. Mancini, Irina Anselm, S von der Haar, Sarina G. Kant, J.M. van de Kamp, J P Monteiro, Nicola Longo, G Soares, Vassili Valayannopoulos, Petra J. W. Pouwels, Drago Bratkovic, H Van Esch, L Abulhoul, David Cheillan, M Fonseca, Helger G. Yntema, Ofir T. Betsalel, J A Maat-Kievit, S Quijano-Roy, L. Lion-François, Jaime Campistol, Gaelle Pitelet, Paula Garcia, M M C Wamelink, Ania C. Muntau, Ben C.J. Hamel, Arnold Munnich, Omar A. Abdul-Rahman

Publikováno v: van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grunewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O A, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C A J M, Mancini, G M & Salomons, G S 2013, ' Phenotype and genotype in 101 males with X-linked creatine transporter deficiency ', Journal of Medical Genetics, vol. 50, no. 7, pp. 463-472 . https://doi.org/10.1136/jmedgenet-2013-101658
Journal of Medical Genetics, 50(7), 463-472. BMJ Publishing Group
Journal of Medical Genetics, 50, 7, pp. 463-72
Journal of Medical Genetics, 50(7), 463-472
Journal of medical genetics, 50(7), 463-472. BMJ Publishing Group
Journal of Medical Genetics, 50, 463-72

Item does not contain fulltext BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71463aa9e2781cbf58299186b4ea36f2
https://hdl.handle.net/1887/101696

Phenotypic variability in a portuguese family with x-linked creatine transport deficiency

Autor: Fidjy Rodrigues, Gajja S. Salomons, Carla Valongo, Paula Garcia, Luísa Diogo

Publikováno v: Pediatric Neurology, 46(1), 39-41. Elsevier Inc.
Garcia, P, Rodrigues, F, Valongo, C, Salomons, G S & Diogo, L 2012, ' Phenotypic Variability in a Portuguese Family With X-Linked Creatine Transport Deficiency ', Pediatric Neurology, vol. 46, no. 1, pp. 39-41 . https://doi.org/10.1016/j.pediatrneurol.2011.10.005

Cerebral creatine transporter deficiency, attributable to mutations in the SLC6A8 gene, causes X-linked mental retardation, language delay, epilepsy, and autistic features. In contrast with creatine synthesis defects, the vast majority of patients wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71c4224ebd48b43132ae4983d66ca519
https://pubmed.ncbi.nlm.nih.gov/22196490