A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines

Autor: Anthony J Scott, Elizabeth G. Ames, Robert L. Conway, Ayesha Ahmad, Kara B. Pappas, Shawn M. Moloney

Publikováno v: American Journal of Medical Genetics Part A. 182:2704-2708

Classic homocystinuria is due to deficiency of cystathionine beta-synthase (CBS), a pyridoxine-dependent enzyme that, depending on the molecular variants, may be co-factor responsive. Elevated methionine is often used as the primary analyte to detect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ab1a73a449026f70b42067d1282a89e6
https://doi.org/10.1002/ajmg.a.61815

An infant with severe combined immunodeficiency, osteopetrosis, chromosomally integrated herpesvirus‐6 infection, and hemophagocytic syndrome: What are the links?

Autor: Pragya Singh, Elizabeth Secord, Süreyya Savaşan, Kara B. Pappas

Publikováno v: Pediatric Blood & Cancer. 68

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2ec6a5f81dc7da835f80edf45e1376cf
https://doi.org/10.1002/pbc.28564

New soil composition data for Europe and Australia : Demonstrating comparability, identifying continental-scale processes and learning lessons for global geochemical mapping

Autor: REIMANN C., DE CARITAT P., GEMAS PROJECT TEAM, NGSA PROJECT TEAM GEMAS PROJECT TEAM: S. ALBANESE, M. ANDERSSON, A. ARNOLDUSSEN, R. BARITZ, M. J. BATISTA, A. BEL LAN, M. BIRKE, D. CICCHELLA, A. DEMETRIADES, B. DE VIVO, W. DE VOS, M. DURIS, A. DUSZA DOBEK, O. A. EGGEN, M. EKLUND, V. ERNSTSEN, P. FILZMOSER, T. E. FINNE, D. FLIGHT, S. FORRESTER, M. FUCHS, U. FUGEDI, A. GILUCIS, M. GOSAR, V. GREGORAUSKIENE, A. GULAN, J. HALAMID, E. HASLINGER, P. HAYOZ, G. HOBIGER, R. HOFFMANN, J. HOOGEWERFF, H. HRVATOVIC, S. HUSNJAK, L. JANIK, C. C. JOHNSON, G. JORDAN, J. KIRBY, J. KIVISILLA, V. KLOS, F. KRONE, P. KWECKO, L. KUTI, A. LADENBERGER, A. LIMA, J. LOCUTURA, P. LUCIVJANSKY, D. MACKOVYCH, B. I. MALYUK, R. MAQUIL, M. MCLAUGHLIN, R. G. MEULI, N. MIOSIC, G. MOL, P. NÉGREL, P. O'CONNOR, K. OORTS, R. T. OTTESEN, A. PASIECZNA, V. PETERSELL, PFLEIDERER, S., M. POHAVIC, C. PRAZERES, U. RAUCH, C. REIMANN, I. SALPETEUR, A. SCHEDL, A. SCHEIB, I. SCHOETERS, P. SEFCIK, E. SELLERSJÖ, F. SKOPLJAK, I. SLANINKA, A. ŠORŠA, R. SRVKOTA, T. STAFILOV, T. TARVAINEN, V. TRENDAVILOV, P. VALERA, V. VEROUGSTRAETE, D. VIDOJEVID, A. M. ZISSIMOS, Z. ZOMENI NGSA PROJECT TEAM: E. BASTRAKOV, D. BOWBRIDGE, P. BOYLE, S. BRIGGS, D. BROWN, M. BROWN, K. BROWNLIE, P. BURROWS, G. BURTON, J. BYASS, P. DE CARITAT, N. CHANTHAPANYA, M. COOPER, L. CRANFIELD, S. CURTIS, T. DENARO, C. DHNARAM, T. DHU, G. DIPROSE, A. FABRIS, M. F.A.I.R.C.L.O.U.G.H. S. FANNING, R. FIDLER, M. FITZELL, P. FLITCROFT, C. FRICKE, D. FULTON, J. FURLONGER, G. GORDON, A. GREEN, G. GREEN, J. GREENFIELD, J. HARLEY, S. HEAWOOD, T. HEGVOLD, K. HENDERSON, E. HOUSE, Z. HUSAIN, B. KRSTESKA, J. LAM, R. LANGFORD, T. LAVIGNE, B. LINEHAN, M. LIVINGSTONE, A. LUKSS, R. MAIER, A. MAKUEI, L. MCCABE, P. MCDONALD, D. MCILROY, D. MCINTYRE, P. MORRIS, G. O’CONNELL, B. PAPPAS, J. PARSONS, C. PETRICK, B. POIGNAND, R. ROBERTS, J. RYLE, A. SEYMON, K. SHERRY, J. SKINNER, M. SMITH, C. STRICKLAND, S. SUTTON, R. SWINDELL, H. TAIT, J. TANG, A. THOMSON, C. THUN, B. UPPILL, K. WALL, J. WATKINS, T. WATSON, L. WEBBER, A. WHITING, J. WILFORD, T. WILSON, A. WYGRALAK, DINELLI, ENRICO

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname

New geochemical data from two continental-scale soil surveys in Europe and Australia are compared. Internal project standards were exchanged to assess comparability of analytical results. The total concentration of 26 oxides/elements (Al2O3, As, Ba,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17f7a2cdafc27ed561274b4747b90f83
https://doi.org/10.1016/j.scitotenv.2011.11.019

Aged but not young rats develop metabolic, memory deficits after chronic brain ischaemia

Autor: M. T. Richard, B. Pappas, P. Kozlowski, J C de la Torre, G.A.S. Park, H. de Socarraz, T. Fortin, K. Butler, J. K. Saunders

Publikováno v: Neurological Research. 14:177-180

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5df1b1cef4e0ca6669a69b9c6ce776c
https://doi.org/10.1080/01616412.1992.11740045

Gender Role Across Development in Adults with 46,XY Disorders of Sex Development Including Perineoscrotal Hypospadias and Small Phallus Raised Male or Female

Autor: Claude J. Migeon, Kara B. Pappas, Amy B. Wisniewski

Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 21

Self-rated degree of femininity and masculinity across development were evaluated for 40 adults affected by 46,XY disorders of sex development (DSDs) who presented at birth with a small phallus and perineoscrotal hypospadias, raised either male (n =

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53651e435d41eb3c88e215f12e4b60a4
https://doi.org/10.1515/jpem.2008.21.7.625