Results 141 to 150 of about 1,740,227 (374)

Hemoglobin E Disorders in South Gujarat – A Study Of 35 Cases

National Journal of Community Medicine, 2012
Background:Among the inherited disorders of blood, hemoglobinopathies and thalassemia constitute a major bulk of non-communicable genetic disease in India.
B M Jha, Bhavna Gamit, Jitendra Patel, Kunal J Prajapati   +3 more
doaj  

Atlas of protein sequence and structure [PDF]

Atlas of protein sequence and ...
Chang, M. A., Dayhoff, M. O., Eck, R. V., Sochard, M. R.   +3 more
core   +1 more source

HB Setif [A94(Gi)Asp+Tyr] in Malta [PDF]

, 1997
Since testing of newborn infants for abnormal hemoglobins (Hbs) was reinitiated in Malta in 1989, about 20,000 cord blood samples have been studied with an isoelectrofocusing (IEF) technique (1). Among these, 2% have an abnormal Hb, i.e. 1.8% have a y-
Borg, Isabella, Felice, Alex, Fiorini, A., Valentino, Mario   +3 more
core  

Hemoglobins of Reptiles [PDF]

, 1988
Braunitzer, Gerhard, Rücknagel, Karl Peter, Wiesner, Henning   +2 more
core   +1 more source

Classical and Late‐Onset SOS/VOD After Allogeneic HSCT: A Japanese Transplant Registry Analysis

American Journal of Hematology, EarlyView.
ABSTRACT Sinusoidal obstruction syndrome/veno‐occlusive disease (SOS/VOD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (allo‐HSCT). According to the 2016 European Society for Blood and Marrow Transplantation criteria, SOS/VOD is classified into classical SOS/VOD and late‐onset SOS/VOD, but their similarities and ...
Kyoko Masuda, Keisuke Kataoka, Masatoshi Sakurai, Yuho Najima, Naonori Harada, Shoko Ukita, Naoyuki Uchida, Noriko Doki, Takahiro Fukuda, Masatsugu Tanaka, Hiroyuki Ohigashi, Jun Ishikawa, Satoshi Yoshihara, Masashi Sawa, Shuichi Ota, Yoshinobu Kanda, Tetsuya Nishida, Makoto Onizuka, Yoshiko Atsuta, Hideki Nakasone, Kimikazu Yakushijin   +20 more
wiley   +1 more source

Long‐Term Outcome of Fanconi Anemia Patients From the Italian Registry on Behalf of the Marrow Failure Study Group of the AIEOP (Italian Association for Pediatric Haematology‐Oncology)

American Journal of Hematology, EarlyView.
ABSTRACT We analyzed 193 Fanconi anemia patients from the Italian Registry, focusing on hematological outcome, cancer risk, and mortality, both in transplanted (n = 130, 67.4% of the cohort) and non‐transplanted (n = 63, 36.6% of the cohort) patients. After a median follow‐up of 7 years, almost all patients developed cytopenia that was more frequent in
Erica Ricci, Francesca Bagnasco, Filomena Pierri, Antonio Risitano, Piero Farruggia, Maura Faraci, Camilla Frieri, Paola Corti, Ugo Ramenghi, Walter Barberi, Giuseppe Menna, Giovanna Giagnuolo, Marta Pillon, Maurizio Miano, Paolo Di Bartolomeo, Marco Zecca, Elena Mastrodicasa, Rosamaria Mura, Beatrice Pinazzi, Laura Luti, Maria Licciardello, Angelica Barone, Marinella Veltroni, Giovanni Palazzi, Federico Verzegnassi, Francesca Patriarca, Daniela Onofrillo, Simone Cesaro, Roberta Ghilardi, Irene D'Alba, Rosa Angarano, Luca Arcuri, Andrea Beccaria, Ramona Tallone, Adriana Zatterale, Carlo Dufour   +35 more
wiley   +1 more source

Oxygen Equilibrium Characteristics of Abnormal Hemoglobins: Hirose (α2β237Ser), L Ferrara (α247Glyβ2), Broussais (α290Asnβ2), and Dhofar (α2β258Arg) [PDF]

, 1972
Shigeru Fujita
openalex   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

The First Case of Hemoglobin J-Guantanamo Reported During HbA1c Measurement by High-Performance Liquid Chromatography at Moroccan Military Hospital Mohammed V. [PDF]

Cureus, 2023
Ouzzif Z, El Moussadeq G, El Maataoui A.
europepmc   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source