Results 41 to 50 of about 54,540 (236)

Congenital Erythropoietic Porphyria: Mild and Severe Form in Two Brothers

Indian Journal of Paediatric Dermatology
Congenital erythropoietic porphyria (CEP) is an autosomal recessive inherited metabolic disorder caused due to deficiency of the enzyme uroporphyrinogen III cosynthase, resulting in large amounts of type I isomers, which massively accumulate in erythroid
Purnachandra Badabagni, Ramadevi Birudala   +1 more
doaj   +1 more source

Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant

Journal of Clinical Laboratory Analysis, EarlyView.
Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee, Ja‐Hyun Jang, Beom Hee Lee, Hee‐Jeong Youk, Eun Sun Kim, Kee Hyun Cho, Yun Sil Chang, Heui Seung Jo, Mi‐Ae Jang   +8 more
wiley   +1 more source

Molecular heterogeneity of pyruvate kinase deficiency

Haematologica, 2020
Red cell pyruvate kinase (PK) deficiency is the most common glycolytic defect associated with congenital non-spherocytic hemolytic anemia. The disease, transmitted as an autosomal recessive trait, is caused by mutations in the PKLR gene and is ...
Paola Bianchi, Elisa Fermo
doaj   +1 more source

ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia

Haematologica, 2016
Phosphatidylserine is localized exclusively to the inner leaflet of the membrane lipid bilayer of most cells, including erythrocytes. This asymmetric distribution is critical for the survival of erythrocytes in circulation since externalized ...
Nobuto Arashiki, Y. Takakuwa, N. Mohandas, J. Hale, Kenichi Yoshida, H. Ogura, T. Utsugisawa, S. Ohga, S. Miyano, S. Ogawa, S. Kojima, H. Kanno   +11 more
semanticscholar   +1 more source

Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study

Frontiers in Physiology, 2021
Congenital hemolytic anemias (CHAs) are heterogeneous and rare disorders caused by alterations in structure, membrane transport, metabolism, or red blood cell production.
E. Fermo, C. Vercellati, A. Marcello, E. Keskin, S. Perrotta, A. Zaninoni, V. Brancaleoni, A. Zanella, J. Giannotta, W. Barcellini, P. Bianchi   +10 more
semanticscholar   +1 more source

A Retrospective Study on Neonatal Jaundice: Early Risk Stratification Value of DAT‐FAT Serological Profiles Confirmed by AET

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT This retrospective study aimed to explore the value of DAT‐FAT serological profiles confirmed by AET in classifying neonatal jaundice, evaluating its severity, and guiding clinical management. A total of 915 jaundiced newborns (584 pathological, 331 physiological) admitted from July 2018 to August 2021 were included.
Tian‐Ge Wu, Yan‐Feng Zhang, Zhong‐Jun Shen, Yao Li, Ning Xu, Xiao‐Yi Liu, Li‐Yan Zhao, Ming‐Hao Shi   +7 more
wiley   +1 more source

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing

Molecular Genetics & Genomic Medicine, 2020
Background Congenital dyserythropoiesis anemia type Ia (OMIM:224120), is a rare hereditary anemia. The diagnosis is difficult to make and usually delayed in part due to its rarity and nonspecific clinical manifestations.
Pei‐Chin Lin, Chao‐Neng Cheng, Hsi‐Yuan Huang, Yu‐Hsin Tseng, Ya‐Sian Chang, Chien‐Yu Lin, Jan‐Gowth Chang   +6 more
doaj   +1 more source

Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy

Chinese Medical Journal, 2019
Here we reported a Chinese Han infant patient with severe transfusion-dependent CHA. Next-generation sequencing (NGS) revealed the co-existence of 2 compound heterozygous mutations of PKLR and SPTA1 genes.
Pengpeng Liu, Hu-Qing Ding, Shenzhen Huang, Sheng Yang, Ting Liu   +4 more
semanticscholar   +1 more source

Positive predictive value of diagnosis coding for hemolytic anemias in the Danish National Patient Register

Clinical Epidemiology, 2016
Dennis Lund Hansen,1 Ulrik Malthe Overgaard,2 Lars Pedersen,3 Henrik Frederiksen1,3 1Department of Haematology, Odense University Hospital, Odense, 2Department of Haematology, Herlev Hospital, Herlev, 3Department of Clinical Epidemiology, Aarhus ...
Hansen DL, Overgaard UM, Pedersen L, Frederiksen H   +3 more
doaj  

Neonatal Atypical Hemolytic Uremic Syndrome in the Eculizumab Era

American Journal of Perinatology Reports, 2021
The atypical hemolytic uremic syndrome (aHUS) in the newborn is a rare disease, with high morbidity. Eculizumab, considered a first-line drug in older children, is not approved in neonates and in children weighing less than 5 kg.
Sara Madureira Gomes, Rita Pissarra Teixeira, Gustavo Rocha, Paulo Soares, Hercilia Guimaraes, Paulo Santos, Joana Jardim, João Luís Barreira, Helena Pinto   +8 more
doaj   +1 more source