Results 21 to 30 of about 25,675 (362)

Liver transplantation for type IV glycogen storage disease [PDF]

, 1991
TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as
Andreas Tzakis, Bannayan, Barbara I. Brown, Brown, Eduardo Yunis, Greene, Illingworth, Ishihara, Ishihara, Mazzaferro, McMaster, Reed, Rick Selby, Ross S. Kendall, Schochet, Stand, Starzl, Thomas E. Starzl   +17 more
core   +1 more source

Coordinated Response to Imported Vaccine-Derived Poliovirus Infection, Barcelona, Spain, 2019–2020

Emerging Infectious Diseases, 2021
In 2019, the Public Health Agency of Barcelona, Spain, was notified of a vaccine-derived poliovirus infection. The patient had an underlying common variable immunodeficiency and no signs of acute flaccid paralysis.
Dolores Álamo-Junquera, Julieta Politi, Pere Simón, Romina Dieli-Crimi, Ricardo Pujol Borrell, Roger Colobran, Monica Martínez-Gallo, Magda Campins, Andrés Antón, Juliana Esperalba, Cristina Andrés, María Gema Codina, Eva Polverino, M. Rosa Narciso, Emilia Molinero, Cristina Rius   +15 more
doaj   +1 more source

Pediatric Hemophagocytic Syndromes: A Diagnostic and Therapeutic Challenge [PDF]

, 2005
Pediatric hemophagocytic syndrome (HS) is a severe and often fatal clinical disorder. This syndrome is frequently unrecognized, and thus, affected children may receive suboptimal management, leading to an increase in mortality. The purpose of this review
Basile, Genevieve de Saint, Jabado, Nada, McCusker, Christine   +2 more
core   +5 more sources

Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review

Journal of Pediatrics Review, 2015
Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease.
Kobra Shiasi Arani
doaj   +3 more sources

Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes [PDF]

, 2013
Purpose of reviewThe purpose of this review is to summarize pathogenic mechanisms and clinical implications of the most illustrative genetic entities of congenital neutropenia syndromes.Recent findingsCongenital neutropenia comprise monogenetic entities ...
Abdollahpour, Adkison, Albert, Ancliff, Armistead, Arnold, Austin, Balabanian, Banerjee, Barbosa, Barth, Barth, Beaudet, Beekman, Beel, Bohn, Bonilla, Boocock, Bordon, Bossi, Boztug, Boztug, Boztug, Boztug, Broun, Carlsson, Carlsson, Carlsson, Carlsson, Cavnar, Chandler, Chao, Chediak, Cilenti, Clark, Crequer, Crosslin, Dale, Dale, de la Fuente, Denic, Devriendt, Donadieu, Donadieu, Dong, Dror, Dufva, Dustin, El Chehadeh, Emberger, Enders, Erickson, Gerin, Germeshausen, Germeshausen, Germeshausen, Grenda, Gullberg, Haddy, Hahn, Hayee, Hermansky, Hernandez, Higashi, Hock, Holland, Horman, Horuk, Horwitz, Horwitz, Horwitz, Horwitz, Hsieh, Hsu, Hunter, Hutton, Janoff, Jessen, Jun, Jun, Kang, Karim, Karsunky, Kinchen, Klebanoff, Klein, Klein, Klein, Kolehmainen, Kollner, Korkmaz, Kostmann, Kourtis, Kracker, Lagane, Lagresle-Peyrou, Lanciotti, Lange, Lee, Lee, Li, Makitie, Makitie, Makitie, Manroe, Marteijn, Massullo, Matsuda, Maurer, McDermott, McKusick, Meeths, Miller, Modem, Moulding, Mroczek, Nagle, Nalls, Nanua, Narisawa, Nehme, Newburger, Ochs, Ohbayashi, Ostergaard, Pannicke, Papadaki, Pasquet, Pearson, Peiper, Person, Raaijmakers, Rahajeng, Ramsuran, Rathinam, Rathinam, Reich, Ridanpaa, Rosenberg, Salipante, Salipante, Sarnowska, Seneca, Sennels, Sharp, Skokowa, Suzuki, Thrasher, Thusberg, Tournamille, Vafiadaki, van de Vijver, Van Gele, Velu, Vilboux, Volpi, Walne, Wang, Wei, Westerberg, Williams, Winkelstein, Wong, Xia, Xue, Ye, Yedavalli, Zarebski, Zhao, Zhu, Zhu, Zhuang, Zuelzer   +172 more
core   +1 more source

Lovo‐cel gene therapy for sickle cell disease: Treatment process evolution and outcomes in the initial groups of the HGB‐206 study

American Journal of Hematology, Volume 98, Issue 1, Page 11-22, January 2023., 2023
Treatment process evolution. *The target TNC for BMH was ≥6 × 108/kg per patient. The Group B1 patient received lovo‐cel produced using both the original and refined manufacturing process, and the Group B2 patient received lovo‐cel produced using only the refined manufacturing process.
Julie Kanter, Alexis A. Thompson, Francis J. Pierciey Jr, Matthew Hsieh, Naoya Uchida, Philippe Leboulch, Manfred Schmidt, Melissa Bonner, Ruiting Guo, Alex Miller, Jean‐Antoine Ribeil, David Davidson, Mohammed Asmal, Mark C. Walters, John F. Tisdale   +14 more
wiley   +1 more source

DiGeorge Syndrome: a not so rare disease

Clinics, 2010
INTRODUCTION: The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life.
Angela BF Fomin, Antonio Carlos Pastorino, Chong Ae Kim, CA Pereira, Magda Carneiro-Sampaio, Cristina Miuki Abe-Jacob   +5 more
doaj   +1 more source

Sex differences in lymphoma incidence and mortality by subtype: A population‐based study

American Journal of Hematology, Volume 98, Issue 1, Page 23-30, January 2023., 2023
A higher incidence and a trend toward higher mortality in men for most lymphoma subtypes is seen in this Swedish population‐based cohort study on adults (age 18‐99) diagnosed with lymphoma 2000‐2019. Male‐to‐female incidence rate ratio (IRR) by male‐to‐female excess mortality ratio (EMR), both adjusted for age and year of diagnosis, by lymphoma subtype.
Cecilia Radkiewicz, Johanna B. Bruchfeld, Caroline E. Weibull, Mathias L. Jeppesen, Henrik Frederiksen, Mats Lambe, Lasse Jakobsen, Tarec C. El‐Galaly, Karin E. Smedby, Tove Wästerlid   +9 more
wiley   +1 more source

Cutaneous T‐cell lymphomas: 2023 update on diagnosis, risk‐stratification, and management

American Journal of Hematology, Volume 98, Issue 1, Page 193-209, January 2023., 2023
Abstract Disease Overview Cutaneous T‐cell lymphomas are a heterogenous group of T‐cell neoplasms involving the skin, the majority of which may be classified as Mycosis Fungoides (MF) or Sézary Syndrome (SS). Diagnosis The diagnosis of MF or SS requires the integration of clinical and histopathologic data.
Alexandra C. Hristov, Trilokraj Tejasvi, Ryan A. Wilcox   +2 more
wiley   +1 more source

Characteristics of Good's Syndrome in China: A Systematic Review

Chinese Medical Journal, 2017
Background: Good's syndrome (GS) is a rare disease characterized by thymoma, hypogammaglobulinemia, low or absent B-cells, decreased T-cells, an inverted CD4+/CD8+ T-cell ratio and reduced T-cell mitogen proliferative responses.
Jin-Pei Dong, Wen Gao, Gui-Gen Teng, Yu Tian, Hua-Hong Wang   +4 more
doaj   +1 more source