Results 81 to 90 of about 509,181 (309)

The Hereditary Ataxias [PDF]

Journal of Neuropathology & Experimental Neurology, 1998
Efforts to classify the hereditary ataxias by their clinical and neuropathological phenotypes are troubled by excessive heterogeneity. Linkage analysis opened the door to a new approach with the methods of molecular biology. The classic form of autosomal recessive ataxia, Friedreich's ataxia (FA), is now known to be due to an intronic expansion of a ...
openaire   +2 more sources

Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy [PDF]

, 2004
Objective: To investigate auditory neural involvement in patients with Leber's hereditary optic neuropathy (LHON).Methods: Auditory assessment was undertaken in two patients with LHON.
Luxon, LM, Ceranic, B
core  

Venetoclax‐Based Therapy as a Bridge to Hematopoietic Stem Cell Transplantation in Relapsed or Refractory Pediatric Acute Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Relapsed and/or refractory (R/R) pediatric acute leukemia carries a dismal prognosis, largely driven by chemoresistance to conventional salvage therapy. The BH3‐mimetic venetoclax, combined with chemotherapy or hypomethylating agents, has demonstrated efficacy in small clinical trials.
Katherine S. Colman, Deborah Meyran, Vajiranee Malalasekera, Heather Weerdenburg, Janine Campbell, Rachel Conyers, Stacie Wang, Hannah Walker, Seong Lin Khaw, Diane Hanna   +9 more
wiley   +1 more source

Full, exact subcategories of hereditary categories which are tubes [PDF]

, 2010
Nils M. Full, exact subcategories of hereditary categories which are tubes.
Nils, Mahrt
core  

Biochemical, Biophysical, and Cellular Investigations of the Interactions of Transferrin Receptor with Transferrin and the Hereditary Hemochromatosis Protein, HFE [PDF]

, 2004
Hereditary hemochromatosis (HH) is a prevalent genetic disorder that results in the daily excess absorption of dietary iron. If untreated this disease leads to systemic organ failure and death. HH is caused by mutations to the gene coding for a protein
Giannetti, Anthony Michael
core   +1 more source

Language, Culture, and Cancer: Qualitative Insights Into Communication Disparities Among Spanish‐Speaking Caregivers of Children With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Latino children are projected to make up nearly one‐third of United States (US) children by 2060, and many of their caregivers speak Spanish. Prior survey research has documented communication difficulties for Spanish‐speaking caregivers of children with cancer, but contemporary qualitative data are limited.
Jenny Ruiz, Alejandra Curbelo‐Paz, Sonia Morales, Elizabeth Contreras, Amy Houtrow, Scott H. Maurer, Judy C. Chang   +6 more
wiley   +1 more source

Charity Medical Care For Hemoglobinopathies At Madinah, Saudi Arabia

Journal of Taibah University Medical Sciences, 2023
Zakaria Al Hawsawi, Mohammed Al Idross, Ahmad Tarawah, Mohammed Zolaly   +3 more
doaj   +1 more source

BMPR2 mutation and clinical response to imatinib in a case of heritable pulmonary arterial hypertension

Pulmonary Circulation
Bone morphogenetic protein receptor 2 (BMPR2) mutation is the most common gene mutation implicated in the pathogenesis of pulmonary arterial hypertension (PAH).
Shine Kumar, Lalitha Biswas, Anju Choorakottayil Pushkaran, Raman Krishna Kumar   +3 more
doaj   +1 more source

Biphasic Clinical Course of Pediatric Cytomegalovirus‐Associated Immune Thrombocytopenia: Early Poor Treatment Response but Favorable Long‐Term Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Cytomegalovirus (CMV) is a recognized trigger of immune thrombocytopenia (ITP); however, its incidence and impact on disease course in children remain controversial. Therefore, we aimed to characterize the clinical course of pediatric patients with CMV‐associated ITP.
Oded Gilad, Ohad Atia, Osama Tanous, Dafna Brik Simon, Michal Dvori, Miriam Cohen, Tracie A. Goldberg, Efraim Bilavsky, Joanne Yacobovich, Orna Steinberg‐Shemer   +9 more
wiley   +1 more source

Therapeutic Apheresis in Nigeria: A Multi‐Center Summary of Abstracts From the Inaugural Nigerian Society for Apheresis Scientific Meeting

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Therapeutic apheresis (TA) is an established treatment modality for hematologic, neurologic, and immunologic disorders, yet access remains severely limited in sub‐Saharan Africa. Donor apheresis, including platelet apheresis collection from healthy donors, represents an important complementary modality supporting blood product ...
Nosa Bazuaye, Chimezie Okwuonu, Evelyn Idam, Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Zinnah Aloziem, Blossom Amamchukwu, Patience Elimia, Mkpoikanabasi Obot‐Obot, Henry Mbakwe, Praises Maduagwuna, Olatunji Akinrodoye, Chiamaka Anyanwu, Benjamin Anyanwu, Adedamola Akinsiku, Oluwatoyin A. Akinsiku, Muzamil O. Hassan, Fatiu A. Arogundade, Olalekan E. Ojo, Homayemem Weli, Jesupelumi Adenihun, Aderemi Adelaja, Ebun Bamgboye, Olalekan Olatise, Ade E. Faponle, Ayoola Odeyemi, Michael Muoka, Stephen Asaolu, Qudrat Busari, Blessing Dawudu, Michael Naiyeju, Rasheed A. Balogun   +33 more
wiley   +1 more source