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	61.	EXTREME HEMOLYSIS AND RED-CELL DISTORTION IN ERYTHROCYTE PYRUVATE KINASE DEFICIENCY. II. MEASUREMENTS OF ERYTHROCYTE GLUCOSE CONSUMPTION, POTASSIUM FLUX AND ADENOSINE TRIPHOSPHATE STABILITY. [electronic resource] by NATHAN, D G OSKI, F A SIDEL, V W DIAMOND, L K Producer: 19961201 In: The New England journal of medicine vol. 272 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	62.	Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. [electronic resource] by Bianchi, Paola Fermo, Elisa Lezon-Geyda, Kimberly van Beers, Eduard J Morton, Holmes D Barcellini, Wilma Glader, Bertil Chonat, Satheesh Ravindranath, Yaddanapudi Newburger, Peter E Kollmar, Nina Despotovic, Jenny M Verhovsek, Madeleine Sharma, Mukta Kwiatkowski, Janet L Kuo, Kevin H M Wlodarski, Marcin W Yaish, Hassan M Holzhauer, Susanne Wang, Heng Kunz, Joachim Addonizio, Kathryn Al-Sayegh, Hasan London, Wendy B Andres, Oliver van Wijk, Richard Gallagher, Patrick G Grace, Rachael F F Producer: 20200603 In: American journal of hematology vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	63.	A novel PKLR gene mutation identified using advanced molecular techniques. [electronic resource] by He, Yunyan Luo, Jianming Lei, Yonghong Jia, Siyuan Liao, Ning Producer: 20180905 In: Pediatric transplantation vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	64.	AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency. [electronic resource] by Kung, Charles Hixon, Jeff Kosinski, Penelope A Cianchetta, Giovanni Histen, Gavin Chen, Yue Hill, Collin Gross, Stefan Si, Yaguang Johnson, Kendall DeLaBarre, Byron Luo, Zhiyong Gu, Zhiwei Yao, Gui Tang, Huachun Fang, Cheng Xu, Yingxia Lv, Xiaobing Biller, Scott Su, Shin-San Michael Yang, Hua Popovici-Muller, Janeta Salituro, Francesco Silverman, Lee Dang, Lenny Producer: 20171002 In: Blood vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	65.	The burden of disease in pyruvate kinase deficiency: Patients' perception of the impact on health-related quality of life. [electronic resource] by Grace, Rachael F Cohen, Jennifer Egan, Shayna Wells, Ted Witherspoon, Brooke Ryan, Aisling Salek, Sam S Bodie, Susan Klaassen, Robert J Producer: 20190211 In: European journal of haematology vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	66.	Rapidly fatal [electronic resource] by Zahid, Mohammad Faizan Bains, Ashish Pal Singh Producer: 20180124 In: Blood vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	67.	Molecular and clinical heterogeneity in pyruvate kinase deficiency in India. [electronic resource] by Warang, Prashant Kedar, Prabhakar Ghosh, Kanjaksha Colah, Roshan Producer: 20140306 In: Blood cells, molecules & diseases vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	68.	Coexistence of congenital red cell pyruvate kinase and band 3 deficiency. [electronic resource] by Branca, R Costa, E Rocha, S Coelho, H Quintanilha, A Cabeda, J M Santos-Silva, A Barbot, J Producer: 20050201 In: Clinical and laboratory haematology vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	69.	[Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency]. [electronic resource] by Li, Dongliang Zhang, Jing Jiao, Baoquan Liu, Yanli Wang, Youjun Wang, Zhiwei Li, Wenjing Hou, Lanfen Sun, Yu Guo, Hongmou Guo, Xiao Producer: 20160421 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	70.	Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity. [electronic resource] by Kitano, A Endo, F Matsuda, I Miyabayashi, S Dahl, H H Producer: 19890901 In: Journal of inherited metabolic disease vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	71.	Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia. [electronic resource] by Kager, Leo Minkov, Milen Zeitlhofer, Petra Fahrner, Bernhard Ratzinger, Franz Boztug, Kaan Dossenbach-Glaninger, Astrid Haas, Oskar A Producer: 20160801 In: Pediatric blood & cancer vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	72.	Determination of [U-13C]glucose turnover into various metabolite pools for the differential diagnosis of lactic acidemias. [electronic resource] by Kassel, D B Glerum, M Robinson, B H Sweeley, C C Producer: 19890803 In: Analytical biochemistry vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	73.	Introduction of a ketogenic diet in young infants. [electronic resource] by Klepper, J Leiendecker, B Bredahl, R Athanassopoulos, S Heinen, F Gertsen, E Flörcken, A Metz, A Voit, T Producer: 20030711 In: Journal of inherited metabolic disease vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	74.	A previously unknown mutation in the pyruvate kinase gene (PKLR) identified from a neonate with severe jaundice. [electronic resource] by Yaish, Hassan M Nussenzveig, Roberto H Agarwal, Archana M Siddiqui, Abdul H Christensen, Robert D Producer: 20150511 In: Neonatology vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	75.	[Disorders of pyruvate metabolism and TCA cycle]. [electronic resource] by Kuroda, Y Producer: 20020117 In: Ryoikibetsu shokogun shirizu no. 36 Availability: No items available. Save to lists Add to cart (remove)
	76.	Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan. [electronic resource] by Kushida, Kazuya Giger, Urs Tsutsui, Toshihiko Inaba, Megumi Konno, Yoshio Hayashi, Kureha Noguchi, Kana Yabuki, Akira Mizukami, Keijiro Kohyama, Moeko Endo, Yasuyuki Yamato, Osamu Producer: 20160407 In: The Journal of veterinary medical science vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	77.	Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency. [electronic resource] by Salek, M S Ionova, T Johns, J R Oliva, E N Producer: 20190328 In: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	78.	Chronic haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease. [electronic resource] by Manco, Licínio Vagace, José Manuel Relvas, Luís Rebelo, Umbelina Bento, Celeste Villegas, Ana Letícia Ribeiro, Maria Producer: 20100514 In: European journal of haematology vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	79.	Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats. [electronic resource] by Grahn, Robert A Grahn, Jennifer C Penedo, Maria Ct Helps, Chris R Lyons, Leslie A Producer: 20130531 In: BMC veterinary research vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	80.	Development of the pyruvate kinase deficiency diary and pyruvate kinase deficiency impact assessment: Disease-specific assessments. [electronic resource] by Salek, Sam Boscoe, Audra N Piantedosi, Sarah Egan, Shayna Evans, Christopher J Wells, Ted Cohen, Jennifer Klaassen, Robert J Grace, Rachael Storm, Michael Producer: 20210118 In: European journal of haematology vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 104 results.