Mütterlicher Vitamin-B12-Mangel: Ursache neurologischer Symptomatik im Säuglingsalter

Autor: I. Poggenburg, G. C. Korenke, K. H. P. Bentele, Hans Hartmann, Thomas Lücke, A. M. Das

Publikováno v: Zeitschrift für Geburtshilfe und Neonatologie. 211:157-161

Background: Symptoms of Vitamin B (12) deficiency in infancy include growth retardation, regression of psychomotor development, muscular hypotonia and brain atrophy. Besides an inappropriate vegetarian diet of the infants, a vegan diet or a perniciou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c7e6cb3518ea8957ff4531e4e8bddc08
https://doi.org/10.1055/s-2007-981249

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

[Maternal vitamin B12 deficiency: cause for neurological symptoms in infancy]

Autor: T, Lücke, G C, Korenke, I, Poggenburg, K H P, Bentele, A M, Das, H, Hartmann

Publikováno v: Zeitschrift fur Geburtshilfe und Neonatologie. 211(4)

Symptoms of Vitamin B (12) deficiency in infancy include growth retardation, regression of psychomotor development, muscular hypotonia and brain atrophy. Besides an inappropriate vegetarian diet of the infants, a vegan diet or a pernicious anaemia of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1879530e27ac665d33f05a1bc4fed4d2
https://pubmed.ncbi.nlm.nih.gov/17729202

Arteria spinalis anterior syndrome after visit of an amusement park with roller coaster rides

Autor: V Kunze, I Marquardt, G Däublin, R Oeverink, I. Poggenburg, G. C. Korenke

Publikováno v: Neuropediatrics. 37

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6377ccfcfd5e14cdd70f852370ce1b07
https://doi.org/10.1055/s-2006-953606

Parry-Romberg syndrome with focal epilepsy, progressive cerebral MRI alterations and CSF findings of a chronic inflammatory CNS disorder

Autor: I. Poggenburg, K. Bootsveld, G. C. Korenke, M. Huppke, E. Hölzle

Publikováno v: Neuropediatrics. 36

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a4c2a7d1c34d353f780186ccaca59422
https://doi.org/10.1055/s-2005-868043