Results 81 to 90 of about 638 (159)

Health-related quality of life and fatigue in children and adults with pyruvate kinase deficiency. [PDF]

Blood Adv, 2022
Al-Samkari H, van Beers EJ, Morton DH, Eber SW, Chonat S, Kuo KHM, Kollmar N, Wang H, Breakey VR, Sheth S, Sharma M, Forbes PW, Klaassen RJ, Grace RF.   +13 more
europepmc   +1 more source

Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy. [PDF]

Prenat Diagn
Lü Y, Chang J, Jiang Y, Zhou X, Hao N, Yu Y, Li M, Yin K, Yang X, Qi Q.   +9 more
europepmc   +1 more source

Pyruvate Kinase Deficiency: Markedly Decreased Reticulocyte PK Activity and Limited Specificity of the PK/HK Ratio. [PDF]

Int J Mol Sci
Koleva L, Dolgikh IA, Kryukova AV, Prudinnik DS, Bovt EA, Shakhidzhanov SS, Mann SG, Smetanina NS, Ataullakhanov FI, Sinauridze EI.   +9 more
europepmc   +1 more source

Enzymatic Anomaly of Erythrocytes in Congenital Nonspherocytic Hemolytic Anemia

The Tohoku Journal of Experimental Medicine, 1961
openaire   +2 more sources

Glucose-6-Phosphate Dehydrogenase Deficiency and Malaria: A Method to Detect Primaquine-Induced Hemolysis in vitro [PDF]

, 2020
Adil M Allahverdiyev, Emrah Sefik Abamor Serkan Yaman, Malahat Bagirova, Olga Nehir Oztel, Rabia Cakir Koc, Serap Yesilkir Baydar, Serhat Elcicek, Sezen Canim Ates   +7 more
core  

Pyruvate kinase deficiency modifies sickle hemoglobin carrier and sickle cell disease phenotypes in mice. [PDF]

JCI Insight
Wang X, Smith M, Kamimura S, Li Q, Shah N, Quezado M, Almeida LE, Vogel S, Tegegn MB, Sun KY, Villasmil R, Liu C, Eaton WA, Thein SL, Quezado ZM.   +14 more
europepmc   +1 more source

Autosomal dominant <i>HK1</i>-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder. [PDF]

Genet Med Open
Ng BG, Eklund EA, Rosenfeld JA, Elias AF, Abu-El-Haija A, Bris C, Barth M, Chae JH, Choi M, Dubbs HA, Fratter C, Foulds N, Gamble C, Gavrilova RH, Haven J, Hoffman TL, Hunter JV, Larson A, Lotze TE, Magoulas P, Magness EC, Bootin DM, Marsh ED, Nesbitt V, Pastore MT, Poulton J, Rahman S, Scaglia F, Murali C, Posey J, Rotenberg J, Schmalz B, Shinde DN, Powis Z, Sukenik-Halevy R, Truxal KV, Uster T, Machado Bressan Wilke MV, Klee E, Woo H, Younkin D, Zhao J, Granadillo J, Lalani S, Chitayat D, Chung WK, Freeze HH, Okur V.   +47 more
europepmc   +1 more source

Severe Hemolytic Anemia: Atypical Presentation of Cobalamin Deficiency. [PDF]

J Pediatr Hematol Oncol
Fraga C, Losa A, Cascais I, Garrido C, Lachado A, Couto Guerra I, Bandeira A, Cleto E, Costa E.   +8 more
europepmc   +1 more source

A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population. [PDF]

Hum Mutat
Younis NS, Alkabsh RM, Nasser Alqahtani SM, Aljuail H, Alhashim MA, Bokhamsin SA, Albaqshi LJ, Alqadhib SF, Aldandan JA, Alshakhs ZA, Altaweel MH, Mohamed ME.   +11 more
europepmc   +1 more source

Newly Identified TPI Deficiency Treatments Function for Novel Disease-Causing Allele, TPI1^R5G. [PDF]

Genes (Basel)
Figura JR, Roberts P, Sawka R, Chambers M, Claudio M, Vollmer LL, Vogt A, Homanics GE, van Beers E, Donge M, Scalais E, Sorlin A, Jou AJ, VanDemark AP, Palladino MJ.   +14 more
europepmc   +1 more source