Clinical spectrum of pyruvate kinase deficiency: Data from the pyruvate kinase deficiency natural history study

Blood

Volumn 131, Issue 20, 2018, Pages 2183-2192

  Grace, Rachael F ^af   Bianchi, Paola ^a   van Beers, Eduard J ^b   Eber, Stefan W ^c   Glader, Bertil ^d   Yaish, Hassan M ^e   Despotovic, Jenny M ^f   Rothman, Jennifer A ^g   Sharma, Mukta ^h   McNaull, Melissa M ⁱ   Fermo, Elisa ^a   Lezon Geyda, Kimberly ^j   Morton, D Holmes ^k,l   Neufeld, Ellis J ^m   Chonat, Satheesh ⁿ   Kollmar, Nina ^o   Knoll, Christine M ^p   Kuo, Kevin ^q   Kwiatkowski, Janet L ^r   Pospíšilová, Dagmar ^s   Pastore, Yves D ^t   Thompson, Alexis A ^u   Newburger, Peter E ^v   Ravindranath, Yaddanapudi ^w   Wang, Winfred C ^m   Wlodarski, Marcin W ^x   Wang, Heng ^y   Holzhauer, Susanne ^z   Breakey, Vicky R ^aa   Kunz, Joachim ^ab   Sheth, Sujit ^ac   Rose, Melissa J ^ad   Bradeen, Heather A ^ae   Neu, Nolan ^af   Guo, Dongjing ^af   Al Sayegh, Hasan ^af   London, Wendy B ^af   Gallagher, Patrick G ^j   Zanella, Alberto ^a   Barcellini, Wilma ^a   more..

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c Schwerpunktpraxis für Pädiatrische Hämatologie Onkologie   (Germany)

^d STANFORD UNIVERSITY   (United States)

^e UNIVERSITY OF UTAH   (United States)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g DUKE UNIVERSITY MEDICAL CENTER   (United States)

^h CHILDREN S MERCY HOSPITAL   (United States)

ⁱ UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

^j YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k Central Pennsylvania Clinic for Special Children and Adults   (United States)

^l LANCASTER GENERAL HOSPITAL   (United States)

^m ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

ⁿ EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^o KLINIKUM KASSEL   (Germany)

^p PHOENIX CHILDREN'S HOSPITAL   (United States)

^q UNIVERSITY OF TORONTO   (Canada)

^r UNIVERSITY OF PENNSYLVANIA   (United States)

^s UNIVERSITY HOSPITAL OLOMOUC   (Czech Republic)

^t UNIVERSITY OF MONTREAL   (Canada)

^u CHILDREN'S MEMORIAL HOSPITAL   (United States)

^v UMASS MEMORIAL MEDICAL CENTER   (United States)

^w WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^x UNIVERSITY OF FREIBURG   (Germany)

^y DDC Clinic Center for Special Needs Children   (United States)

^z CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^aa MCMASTER UNIVERSITY   (Canada)

^ab Zentrum fur Kinder und Jugendmedizin   (Germany)

^ac NEW YORK PRESBYTERIAN HOSPITAL   (United States)

^ad THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^ae UNIVERSITY OF VERMONT   (United States)

^af DANA FARBER CANCER INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; HEMOGLOBIN; PYRUVATE KINASE;

APLASTIC CRISIS; ARTICLE; BILIRUBIN BLOOD LEVEL; BONE FRAGILITY; CHOLECYSTECTOMY; CLINICAL FEATURE; EDEMA; ENZYME DEFICIENCY; EXCHANGE BLOOD TRANSFUSION; EXTRAMEDULLARY HEMATOPOIESIS; FEMALE; GALLSTONE; GENOTYPE PHENOTYPE CORRELATION; HEMOGLOBIN BLOOD LEVEL; HUMAN; IRON OVERLOAD; LEG ULCER; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEONATAL HYPERBILIRUBINEMIA; NEWBORN; NEWBORN ANEMIA; OSTEOPENIA; PHOTOTHERAPY; POSTOPERATIVE THROMBOSIS; PREMATURITY; PRIORITY JOURNAL; PROSPECTIVE STUDY; PULMONARY HYPERTENSION; PYRUVATE KINASE DEFICIENCY; RETROSPECTIVE STUDY; SEPSIS; SPLENECTOMY; SURGICAL RISK; ADOLESCENT; ADULT; BLOOD TRANSFUSION; CHILD; CLINICAL TRIAL; DEFICIENCY; DISORDERS OF CARBOXYLIC ACID METABOLISM; ENZYME ACTIVATION; GENETIC ASSOCIATION STUDY; GENOTYPE; HEREDITARY HEMOLYTIC ANEMIA; INFANT; METABOLISM; MIDDLE AGED; MULTICENTER STUDY; MULTIMODALITY CANCER THERAPY; MUTATION; PHENOTYPE; PRESCHOOL CHILD; PROCEDURES; SYMPTOM ASSESSMENT; TREATMENT OUTCOME; YOUNG ADULT;

ADOLESCENT; ADULT; ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; BLOOD TRANSFUSION; CHILD; CHILD, PRESCHOOL; CHOLECYSTECTOMY; COMBINED MODALITY THERAPY; ENZYME ACTIVATION; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PYRUVATE KINASE; PYRUVATE METABOLISM, INBORN ERRORS; SPLENECTOMY; SYMPTOM ASSESSMENT; TREATMENT OUTCOME; YOUNG ADULT;

EID: 85047251873     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2017-10-810796     Document Type: Article

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