Works matching DE "CONGENITAL hemolytic anemia"

Results: 128

Neonatal hereditary spherocytosis: a case report.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02049-w

By:

Coramusi, Carolina;
Lucangeli, Natalia;
Vadalà, Sarah;
Parisi, Pasquale;
Scapillati, Maria Eleonora

Publication type:

Article

Radionuclide Liver-Spleen Scan to Detect Splenosis.

Published in:

Indian Journal of Surgery, 2019, v. 81, n. 6, p. 602, doi. 10.1007/s12262-019-01911-6

By:

Solav, S. V.;
Patil, A. M.;
Savale, S. V.

Publication type:

Article

Moyamoya disease associated with hereditary spherocytosis.

Published in:

2018

By:

Saraf, U. Umesh;
Arun, K.;
Sreedharan, Sapna E.;
Rajalakshmi, P.;
Sylaja, P. N.;
Umesh, Saraf U

Publication type:

Case Study

Candidate Variant Detection by Whole Exome Sequencing in Two Cases with Congenital Hemolytic Anemia.

Published in:

Experimed, 2022, v. 12, n. 1, p. S16

By:

Altindirek, Didem;
Bilici, Mustafa;
Ünal, Şule;
Tuğcu, Deniz;
Karaman, Serap;
Karakaş, Zeynep;
Sayitoğlu, Müge

Publication type:

Article

Management of Anesthesia During Splenectomy and Cholecystectomy in a Pregnant Woman With Hereditary Spherocytosis.

Published in:

Journal of Guilan University of Medical Sciences, 2021, v. 30, n. 117, p. 76, doi. 10.32598/JGUMS.30.1.2

By:

Khoshrang, Hossein;
Tehran, Samaneh Ghazanfar;
Louyeh, Hourvash Ebrahimi;
Moafi Madani, Seyyed Masoud

Publication type:

Article

Severe hereditary haemolytic anaemia in a Caucasian newborn: a new fetal haemoglobin variant Hb F-Bonheiden ((G)gamma 38(C4) Thr-->Pro).

Published in:

2005

By:

Van den Driessche, Marleen;
Moerman, Jan;
Moens, Marc;
Van Eldere, Stefaan;
Derclaye, Isabelle;
Philippe, Marianne

Publication type:

journal article

An infant with chronic hemolytic anemia.

Published in:

2014

By:

Tüysüz, Gülen;
Özdemir, Gül Nihal;
Celkan, Tiraje

Publication type:

Case Study

Breath-holding spells occur disproportionately more often in children with transient erythroblastopenia.

Published in:

2016

By:

Hellström Schmidt, Sanna;
Tedgård, Ulf;
Pronk, Cornelis J.H.;
Hellström Schmidt, Sanna;
Tedgård, Ulf

Publication type:

journal article

Addressing the burden of neonatal hyperbilirubinaemia in countries with significant glucose-6-phosphate dehydrogenase deficiency.

Published in:

Acta Paediatrica, 2014, v. 103, n. 11, p. 1102, doi. 10.1111/apa.12735

By:

Olusanya, Bolajoko O.;
Emokpae, Abieyuwa A.;
Zamora, Tara G.;
Slusher, Tina M.

Publication type:

Article

Red cell osmotic fragility in pregnant Nigerian women.

Published in:

1994

By:

Emembolu, J.O.;
Mba, E.C.

Publication type:

Letter

Streptococcal pyomyositis in asplenia and underlying connective tissue disease.

Published in:

Baylor University Medical Center Proceedings, 2023, v. 36, n. 4, p. 518, doi. 10.1080/08998280.2023.2210483

By:

Nguyen, John;
Singh, Pardeep;
Gajjar, Tapas

Publication type:

Article

Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00130-w

By:

Ogura, Hiromi;
Ohga, Shouichi;
Aoki, Takako;
Utsugisawa, Taiju;
Takahashi, Hidehiro;
Iwai, Asayuki;
Watanabe, Kenichiro;
Okuno, Yusuke;
Yoshida, Kenichi;
Ogawa, Seishi;
Miyano, Satoru;
Kojima, Seiji;
Yamamoto, Toshiyuki;
Yamamoto-Shimojima, Keiko;
Kanno, Hitoshi

Publication type:

Article

A rare case of genetically linked primary distal renal tubular acidosis and Southeast Asian ovalocytosis.

Published in:

2020

By:

Martin, Jacqueline L.;
Davis‐Cochrane, Alexander G. J.;
Temelcos, Catherine;
Unwin, Robert J.;
Walsh, Stephen B.;
Tam, Constantine;
Goodman, David

Publication type:

Case Study

Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/451861

By:

Shin-ichiro Suemori;
Hideho Wada;
Hidekazu Nakanishi;
Takayuki Tsujioka;
Takashi Sugihara;
Kaoru Tohyama

Publication type:

Article

Mechanisms Linking Red Blood Cell Disorders and Cardiovascular Diseases.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/682054

By:

Mozos, Ioana

Publication type:

Article

Hemolytic anemia caused by G-6-PD Carswell, a new variant.

Published in:

1971

By:

Siegel, Norman H.;
Beutler, Ernest;
Siegel, N H;
Beutler, E

Publication type:

journal article

Identification of Rh alloantibody in Thalassaemia Patients.

Published in:

Journal of Medicine, 2016, v. 17, n. 2, p. 79, doi. 10.3329/jom.v17i2.30069

By:

SULTANA, NAHID;
RAHMAN, ATIAR;
EASMIN, FATEMA;
HOQUE, MD. MAZHARUL;
ISLAM, KASHFIA;
SHORMIN, SONIA;
BISWAS5, JOLLY

Publication type:

Article

Portal and superior mesenteric vein thrombosis in a patient with hereditary spherocytosis: a case report.

Published in:

Iranian Journal of Gastroenterology & Hepatology (GOVARESH), 2017, v. 22, n. 3, p. 57

By:

Ali, Ghavidel;
Aliasghar, Pouri

Publication type:

Article

Hereditary Spherocytosis in the Neonatal Period: A Case Report.

Published in:

Neonatal Network, 2017, v. 36, n. 5, p. 280, doi. 10.1891/0730-0832.36.5.280

By:

Will, Ashley;
Henderson, Cheryl A.;
Jnah, Amy J.;
Newberry, Desi

Publication type:

Article

Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.

Published in:

2021

By:

Fattizzo, Bruno;
Giannotta, Juri Alessandro;
Cecchi, Nicola;
Barcellini, Wilma

Publication type:

journal article

Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report.

Published in:

2022

By:

Zu, Yumei;
Wang, Hui;
Lin, Weijia;
Zou, Chaochun

Publication type:

journal article

Functional analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program.

Published in:

Genetics, 2024, v. 228, n. 4, p. 1, doi. 10.1093/genetics/iyae170

By:

Powell, Nicholas R;
Geck, Renee C;
Lai, Dongbing;
Shugg, Tyler;
Skaar, Todd C;
Dunham, Maitreya J

Publication type:

Article

Human parvovirus B19‐associated encephalopathy with hereditary spherocytosis.

Published in:

2019

By:

Shinagawa, Ayano;
Fumimoto, Rei;
Nakamura, Yukitsugu;
Katsuta, Tomohiro;
Yamamoto, Hitoshi

Publication type:

Case Study

Five‐aminolevulinic acid: New approach for congenital sideroblastic anemia.

Published in:

Pediatrics International, 2018, v. 60, n. 5, p. 496, doi. 10.1111/ped.13558

By:

Ishida, Hiroyuki;
Imamura, Toshihiko;
Morimoto, Akira;
Fujiwara, Tohru;
Harigae, Hideo

Publication type:

Article

Hereditary spherocytosis diagnosed with the eosin-5′-maleimide binding test.

Published in:

Pediatrics International, 2014, v. 56, n. 3, p. 427, doi. 10.1111/ped.12293

By:

Watanabe, Toru;
Ono, Hiroyuki;
Tajima, Iwao;
Ishigaki, Hidetoshi;
Hakamata, Akio;
Shirai, Masami;
Endoh, Akira;
Hongo, Teruaki

Publication type:

Article

Prenatal diagnosis of rapidly involuting congenital hemangioma: a case report and review of the literature.

Published in:

2018

By:

Smet, Maria-Elisabeth;
Pincham, Vanessa;
McLennan, Andrew

Publication type:

Case Study

Hereditary Pyropoikilocytosis: A Rare But Not Uncommon Disease.

Published in:

South Dakota Medicine, 2016, v. 69, n. 5, p. 208

By:

Gali, Vasantha L.;
Lynch, Douglas W.

Publication type:

Article

Haemolytic crisis of hereditary spherocytosis.

Published in:

2022

By:

Hiroki Matsuura;
Yutaro Shiraishi;
Matsuura, Hiroki;
Shiraishi, Yutaro

Publication type:

journal article

Splenic infarction after Epstein-Barr virus infection in a patient with hereditary spherocytosis: a case report and literature review.

Published in:

2022

By:

Ma, Zhongwu;
Wang, Zhejin;
Zhang, Xiaodan;
Yu, Haibo

Publication type:

journal article

Glucose-6-Phosphate Dehydrogenase Deficiency: A Single-Center Experience.

Published in:

Turkish Archives of Pediatrics, 2022, v. 57, n. 1, p. 104, doi. 10.5152/TurkArchPediatr.2022.21195

By:

Al-Mendalawi, Mahmood D.

Publication type:

Article

Glucose 6 phosphate dehydrogenase deficiency: A single-center experience.

Published in:

Turkish Archives of Pediatrics, 2021, v. 56, n. 3, p. 245, doi. 10.5152/TurkArchPediatr.2021.20042

By:

Kılıç, Mehmet Akif;
Özdemir, Gül Nihal;
Tahtakesen, Tuba Nur;
Uysalol, Ezgi Paslı;
Bayram, Cengiz;
Ayçiçek, Ali;
Aydoğan, Gönül

Publication type:

Article

In the era of automation and molecular techniques, is peripheral blood smear examination getting redundant?

Published in:

International Journal of Advanced Medical & Health Research, 2022, v. 9, n. 1, p. 1, doi. 10.4103/ijamr.ijamr_104_22

By:

Basu, Debdatta

Publication type:

Article

Early Development of Ubiquitous Acanthocytosis and Extravascular Hemolysis in Lung Cancer Patients Receiving Alectinib.

Published in:

Cancers, 2022, v. 14, n. 11, p. 2720, doi. 10.3390/cancers14112720

By:

Kunz, Julia;
Wiedemann, Christiane;
Grosch, Heidrun;
Kriegsmann, Katharina;
Gryzik, Stefanie;
Felden, Julia;
Hundemer, Michael;
Seker-Cin, Huriye;
Stenzinger, Miriam;
Leo, Albrecht;
Stenzinger, Albrecht;
Thomas, Michael;
Christopoulos, Petros

Publication type:

Article

Hereditary spherocytosis.

Published in:

1989

By:

Agre, P

Publication type:

journal article

A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report.

Published in:

2022

By:

Rehman, Atta Ur;
Rashid, Abdur;
Hussain, Zubair;
Shah, Khadim

Publication type:

journal article

A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report.

Published in:

2021

By:

Sivashangar, Ahalyaa;
Gooneratne, Lallindra;
Clark, Barnaby;
Rees, David;
Jayasinghe, Saroj;
Laas, Claire

Publication type:

journal article

Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing.

Published in:

Archives of Iranian Medicine (AIM), 2022, v. 25, n. 10, p. 691, doi. 10.34172/aim.2022.108

By:

Sisakht, Jafar Mehrabi;
Mehri, Maghsood;
Najmabadi, Hossein;
Azarkeivan, Azita;
Neishabury, Maryam

Publication type:

Article

Acute severe anaemia in an elderly patient with hereditary sphaerocytosis.

Published in:

2003

By:

Imhof, A.;
Kronenberg, A.;
Walter, R.B.;
Streuli, R.A.

Publication type:

journal article

Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature.

Published in:

2021

By:

Chavan, Pallavi Pimpale;
Aksentijevich, Ivona;
Daftary, Aditya;
Panwala, Hiren;
Khemani, Chetna;
Khan, Archana;
Khubchandani, Raju

Publication type:

journal article

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.

Published in:

2020

By:

Svidnicki, M. C. C. M.;
Zanetta, G. K.;
Congrains-Castillo, A.;
Costa, F. F.;
Saad, S. T. O.

Publication type:

journal article

Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India.

Published in:

2020

By:

More, Tejashree Anil;
Dongerdiye, Rashmi;
Devendra, Rati;
Warang, Prashant P.;
Kedar, Prabhakar S.

Publication type:

journal article

Congenital dyserythropoietic anemia type I mimicking myelodysplasia syndrome with a novel CDAN1 mutation.

Published in:

2020

By:

Lv, Xueyan;
Dong, Shanwu;
Lan, Fengli;
Zhang, Bingyu;
Chen, Hongbo;
Jin, Runming

Publication type:

Case Study

A case report of congenital erythropoietic anemia II in China with a novel mutation.

Published in:

2019

By:

Zhang, Hong;
Wan, Wuqing;
Liu, Xiaoyan;
Wen, Chuan;
Liu, Ying;
Luo, Senlin;
Sun, Xiao;
Liu, Shizhe

Publication type:

Case Study

Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations.

Published in:

2017

By:

Kedar, Prabhakar;
Parmar, Vaishali;
Devendra, Rati;
Gupta, Vinod;
Warang, Prashant;
Madkaikar, Manisha

Publication type:

Case Study

Red blood cell aquaporin-1 expression is decreased in hereditary spherocytosis.

Published in:

2016

By:

Crisp, Renée;
Maltaneri, Romina;
Vittori, Daniela;
Solari, Liliana;
Gammella, Daniel;
Schvartzman, Gabriel;
García, Eliana;
Rapetti, María;
Donato, Hugo;
Nesse, Alcira;
Crisp, Renée L;
Maltaneri, Romina E;
Vittori, Daniela C;
Rapetti, María C

Publication type:

journal article

Hereditary xerocytosis, a misleading anemia.

Published in:

2016

By:

Del Orbe Barreto, R.;
Arrizabalaga, B.;
De la Hoz Rastrollo, A.;
García-Orad, A.;
Gonzalez Vallejo, I.;
Bento, C.;
Villegas, A.;
García-Ruiz, J.;
De la Hoz Rastrollo, A B;
García-Orad, A;
García-Ruiz, J C

Publication type:

Case Study

Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency.

Published in:

2016

By:

Pereira, Janet;
Bento, Celeste;
Manco, Licinio;
Gonzalez, Ataulfo;
Vagace, Jose;
Ribeiro, Maria;
Ribeiro, Maria Letícia

Publication type:

Case Study

Genome-Wide Association for HbA1c in Malay Identified Deletion on SLC4A1 that Influences HbA1c Independent of Glycemia.

Published in:

2020

By:

Jin-Fang Chai;
Shih-Ling Kao;
Chaolong Wang;
Victor Jun-Yu Lim;
Ing Wei Khor;
Jinzhuang Dou;
Podgornaia, Anna I.;
Chothani, Sonia;
Ching-Yu Cheng;
Sabanayagam, Charumathi;
Tien-Yin Wong;
van Dam, Rob M.;
Jianjun Liu;
Reilly, Dermot F.;
Paterson, Andrew D.;
Xueling Sim;
Chai, Jin-Fang;
Kao, Shih-Ling;
Wang, Chaolong;
Lim, Victor Jun-Yu

Publication type:

journal article

Transient erythroblastopenia of childhood after COVID-19 infection: a case report.

Published in:

Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01700-2

By:

Rivetti, Giulio;
Abbate, Fabio Giovanni;
Longobardi, Marialaura;
Marrapodi, Maria Maddalena;
Lanzaro, Francesca;
Di Martino, Martina;
Vallefuoco, Fara;
D'Angelo, Velia;
Casale, Maddalena;
Tartaglione, Immacolata;
Perrotta, Silverio;
Roberti, Domenico

Publication type:

Article

Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population.

Published in:

Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01493-w

By:

Saptarshi, Arati Nandan;
Dongerdiye, Rashmi K.;
More, Tejashree Anil;
Kedar, Prabhakar S.

Publication type:

Article