Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study

Autor: Iyar Mazar, Jonathan Stokes, Sarah Ollis, Emily Love, Ashlee Espensen, Peter G. Barth, John H. Powers, Alan L. Shields

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)

Abstract Background Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy primarily affecting la

Externí odkaz: https://doaj.org/article/b8086c2c7af8476fbc352a104b80e760

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

Autor: Fredoen Valianpour, Voula Mitsakos, Dimitri Schlemmer, Jeffrey A. Towbin, Juliet M. Taylor, Paul G. Ekert, David R. Thorburn, Arnold Munnich, Ronald J.A. Wanders, Peter G. Barth, Frédéric M. Vaz

Publikováno v: Journal of Lipid Research, Vol 46, Iss 6, Pp 1182-1195 (2005)

Barth syndrome (BTHS) is an X-linked recessive disorder that is biochemically characterized by low cellular levels of the mitochondrial phospholipid cardiolipin (CL). Previously, we discovered that the yeast disruptant of the TAZ ortholog in Saccharo

Externí odkaz: https://doaj.org/article/c824b2a692ff4f359af39127a00e106a

Alterações químicas do solo e resposta da soja ao calcário e gesso aplicados na implantação do sistema plantio direto

Autor: E. F. Caires, J. Blum, G. Barth, F. J. Garbuio, M. T. Kusman

Publikováno v: Revista Brasileira de Ciência do Solo, Vol 27, Iss 2, Pp 275-286 (2003)

Na região sul do Brasil, tem aumentado o interesse pela busca de alternativas para a instalação de culturas, no sistema plantio direto, em áreas novas, sem proporcionar revolvimento do solo. Com o objetivo de avaliar as alterações químicas do

Externí odkaz: https://doaj.org/article/8bf3e78b58014361930123bed9feb40e

Neuroimaging of Fetal Infection

Autor: C Marchal, D D McIntire, M Massoud, F Lazzini, N Linder, D Levine, C Gutiérrez-Márquez, L A Bailão, G L Hedlund, G C Meyberg-Solomayer, G G Colleoni, A Benachi, T R de Haan, L Quartulli, P M Jayaram, G F Eich, L W Averill, A Vorsselmans, F Bonilla-Musoles, A Vossough, M S van der Knaap, L Geerts, F Dhombres, D Kidron, M L Watt-Morse, F Peyron, J Pardo, J Nijman, J Amir, J E Sanín-Blair, N P Deasy, H Werner, J Atias, M de Santis, M T Whitehead, P T Levy, P Tomà, M Vouga, S Friszer, A Buenerd, B Tatli, G Malm, G Duarte, B Weisz, H Buxmann, G Hartnoll, A Perolo, P Bonasoni, S Stagno, B Tseng, Y J Crow, R Biancheri, T Lerman-Sagie, K Dewar, M A Verboon-Maciolek, D O'Rourke, O Picone, M A al Thagafi, J T Parer, M L Rossi, S Lipitz, M Mohlo, F Brunelle, L Schuler-Faccini, J L Anderson, O A Glenn, R Wright, D Lev, M Uriel, D M Twickler, L R Pistorius, M Wien, L M Hill, F Piersigilli, B Maugey-Laulom, R F Pass, C E Lindan, A Beke, Y Murakami, H Gunardi, B Guerra, R Salmaso, E Martin, V Wiwanitkit, G Sournies, D Warren, A Yuksel, M L Kulkarni, G R Nagy, Y Mogami, K Latkóczy, A Carletti, J C Rodriguez Leonel, Y Suzuki, A Zerem, N Teissier, Y Yinon, G Cloud, L S de Vries, C A Alford, I Simon, B Suarez, P Mezzano, P Pinaud, C Soussotte, A A Karparov, M C Maberry, P Soares de Oliveira-Szejnfeld, G M Magnano, A L White, T Drier de Laforte, A G Cordier, M Besnard, S al Shahwan, P W Callen, M D King, F H Carvalho, L J Salomon, Y Akyol, A S Melo, D Nadal, M I Steinlin, E Araujo Júnior, M L Daniel, C Cluver, C R Wake, K Yanagihara, M Nishioka, I H Kalelioglu, Ashley J. Robinson, A Rossi, E Done, C Auriti, D Pugash, Y Toribe, J Gunkel, A C Regenstein, W K Oliveira, P Maurice, J F Bale, F Gay-Andrieu, N M Mehta, K B Fowler, G M Schauer, L A Ramenghi, L A Bok, M M Cannie, C Parazzini, R Has, S A Laifer, A Righini, A J Barkovich, P Sonigo, M Epelman, M Feldmann, M Tamarkin, A M Kulkarni, Y Ville, E J Boltshauser, S Domizio, A Yildirim, B Feldman, W Bonacci, S Sigaudy, S Ryan, N Farkas, G A Vorona, J Garcia-Flores, E Schiff, E Cristina, C Y Ho, A U Stücker, S N Bryant, S Parisot, V V Kandula, J M Jarosz, B J Freij, C Gire, J M Jouannic, K B Leonard, P S Dimova, G J Demmler, N G Osborne, L Sanapo, L Guibaud, M R De Gasperis, P Guillemette-Artur, L Ben-Sira, S Baskar, T C Cox, C P Dunham, T Matsuishi, M Recio, S M Lanni, E M Korhonen, B Joob, M M Amorim, Y Dogan, G V França, M Motobayashi, L Tychsen, P G Barth, D Baud, C L Ong, P Marty, T C Bailão, M Nishikawa, D Carles, L Bradley, P Droulle, N Girard, D M Money, S Stivaros, M W Rac, D A Herrera, W J Britt, M Severino, J H Livingston, I Muller-Hansen, N Zahalka, M C Rizzi, M. Ashraf Ederies, E H Gröndahl, M Cagneaux, T J Boll, J Pialat, J R Marquis, C Garel, F S Cole, R Franco, J Perlman, J Attia-Sobol, N Oosterom, M Leyder, J L Sever, D Prayer, T Fehm, D Eyrolle-Guignot, R S Aguiar, D J Bonthius, G Malinger, M Tepperberg-Dikawa, F Groenendaal, G Serra, H Odendaal, A Reitter, G Seganti, G Tonni, C Doneda, C Hoffmann, L Ben Sira, C D Smyser, F Jacquemard, Y Yamashita, G Sabatino, G Simonazzi, A D Bardeguez, R Meyer, J P Crino, E Hughes, J Courtier, R W Driggers, Y Inaba, F Diard, R Devlieger, I Lewensohn-Fuchs, G Hendson, M L Engman, J Smal, G Benoist

Publikováno v: Journal of Pediatric Neurology. 15:192-200

Infection during pregnancy is common and the developing fetal brain is vulnerable to vertical transmission due to immaturity of the fetal immune system. Infection is a major cause of multiple organ abnormalities, including the neuraxis, due to the ne

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::11f68a270fe23e58d18199f4d78964c1
https://doi.org/10.1055/s-0037-1604219

A male infant with holoprosencephaly, associated with ring chromosome 21

Autor: Daniel C. Aronson, M. C. E. Jansweijer, Jan M.N. Hoovers, P. G. Barth

Publikováno v: Clinical Genetics. 31:48-52

An infant with holoprosencephaly and a karyotype 46,XY,r(21) is reported. No distinctive craniofacial features suggesting holoprosencephaly were present in this infant who presented with epilepsy, microcephaly and scoliosis with hemivertebra Th 10. T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e295406d2f6a0a42699cd30906e4c870
https://doi.org/10.1111/j.1399-0004.1987.tb02766.x