Detalhe da pesquisa
1.
Comorbidities and complications in adults with pyruvate kinase deficiency.
Eur J Haematol
; 106(4): 484-492, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33370479
2.
Pyruvate kinase deficiency in children.
Pediatr Blood Cancer
; 68(9): e29148, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34125488
3.
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
Blood
; 131(20): 2183-2192, 2018 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29549173
4.
Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane.
Br J Haematol
; 187(3): 386-395, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273765
5.
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
Am J Hematol
; 94(1): 149-161, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30358897
6.
Early postnatal diagnosis of hereditary spherocytosis by combining light microscopy, acidified glycerol lysis test and eosin-5'-maleimide binding assay.
Ann Hematol
; 94(12): 1959-64, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26336967
7.
Erythrocyte pyruvate kinase deficiency: 2015 status report.
Am J Hematol
; 90(9): 825-30, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26087744
8.
Characterization of the severe phenotype of pyruvate kinase deficiency.
Am J Hematol
; 95(10): E281-E285, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619047
9.
Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study.
Haematologica
; 104(2): e51-e53, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30213831
10.
The change of psychosocial stress factors in families with infants and toddlers during the COVID-19 pandemic. A longitudinal perspective on the CoronabaBY study from Germany.
Front Pediatr
; 12: 1354089, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562139
11.
Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.
Lancet Haematol
; 11(3): e228-e239, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38330977
12.
Easing pandemic-related restrictions, easing psychosocial stress factors in families with infants and toddlers? Cross-sectional results of the three wave CoronabaBY study from Germany.
Child Adolesc Psychiatry Ment Health
; 17(1): 76, 2023 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353851
13.
[Congenital hemolytic anemias due to erythrocyte membrane and enzyme defects]. / Kongenitale hämolytische Anämien durch Membran- und Enzymdefekte der Erythrozyten.
Dtsch Med Wochenschr
; 147(19): 1266-1276, 2022 09.
Artigo
em Alemão
| MEDLINE | ID: mdl-36126925
14.
A cross-sectional investigation of psychosocial stress factors in German families with children aged 0-3 years during the COVID-19 pandemic: initial results of the CoronabaBY study.
Child Adolesc Psychiatry Ment Health
; 16(1): 37, 2022 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35581664
15.
Health-related quality of life and fatigue in children and adults with pyruvate kinase deficiency.
Blood Adv
; 6(6): 1844-1853, 2022 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34470054
16.
Functional Classification of Paediatric Patients with Non-syndromic Delta-Storage Pool Deficiency.
Hamostaseologie
; 39(4): 383-391, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30463093
17.
Defective Zn2+ homeostasis in mouse and human platelets with α- and δ-storage pool diseases.
Sci Rep
; 9(1): 8333, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31171812
18.
Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout.
Br J Haematol
; 161(4): 602-4, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23406318
19.
Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder.
TH Open
; 2(4): e445-e454, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31249973
20.
Hepatic veno-occlusive disease in pediatric stem cell transplantation: impact of pre-emptive antithrombin III replacement and combined antithrombin III/defibrotide therapy.
Haematologica
; 91(6): 795-800, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16769582