Pyruvate Kinase (PK) Protein and Enzyme Levels in the Diagnosis and Clinical Phenotype of PK Deficiency

被引:1
|
作者
Addonizio, Kathryn [1 ]
Al-Samkari, Hanny [2 ]
Glader, Bertil [3 ]
Morton, D. Holmes [4 ,5 ]
Chonat, Satheesh [6 ,7 ]
Thompson, Alexis A. [8 ]
Kuo, Kevin H. M. [9 ]
Ravindranath, Yaddanapudi [10 ]
Wang, Heng [11 ]
Rothman, Jennifer A. [12 ]
Kwiatkowski, Janet L. [13 ]
Kung, Charles [14 ]
Kosinski, Penelope A. [14 ]
Al-Sayegh, Hasan [1 ]
London, Wendy B. [1 ]
Grace, Rachael F. [1 ]
机构
[1] Dana Farber Boston Childrens Canc & Blood Disorde, Boston, MA USA
[2] Harvard Univ, Dana Farber Canc Inst, Massachusetts Gen Hosp, Div Hematol, Boston, MA 02115 USA
[3] Stanford Univ, Sch Med, Dept Pediat, Palo Alto, CA 94304 USA
[4] Lancaster Gen Hosp, Lancaster, PA USA
[5] Cent Penn Clin Special Children & Adults, Belleville, PA USA
[6] Childrens Healthcare Atlanta, Aflac Canc Blood Disorders Ctr, Atlanta, GA USA
[7] Emory Univ, Dept Pediat, Atlanta, GA 30322 USA
[8] Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA
[9] Univ Toronto, Div Hematol, Dept Med, United Hlth Network, Toronto, ON, Canada
[10] Wayne State Univ, Childrens Hosp Michigan, Sch Med, Detroit, MI USA
[11] DDC Clin Ctr Special Needs Children, Middlefield, OH USA
[12] Duke Univ, Med Ctr, Durham, NC USA
[13] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA
[14] Agios Pharmaceut Inc, Cambridge, MA USA
关键词
D O I
10.1182/blood-2019-125248
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页数:4
相关论文
共 50 条
  • [1] The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency
    Al-Samkari, Hanny
    Addonizio, Kathryn
    Glader, Bertil
    Morton, D. Holmes
    Chonat, Satheesh
    Thompson, Alexis A.
    Kuo, Kevin H. M.
    Ravindranath, Yaddanapudi
    Wang, Heng
    Rothman, Jennifer A.
    Kwiatkowski, Janet L.
    Kung, Charles
    Kosinski, Penelope A.
    Al-Sayegh, Hasan
    London, Wendy B.
    Grace, Rachael F.
    BRITISH JOURNAL OF HAEMATOLOGY, 2021, 192 (06) : 1092 - 1096
  • [2] Pyruvate kinase (PK) deficiency in newborns: The pitfalls of diagnosis
    Pissard, Serge
    De Montalembert, Mariane
    Bachir, Dora
    Max-Audit, Isabelle
    Goossens, Michel
    Wajcman, Henri
    Bader-Meunier, Brigitte
    JOURNAL OF PEDIATRICS, 2007, 150 (04): : 443 - 445
  • [3] Increased levels of pyruvate kinase (PK) antigen in red blood cells of patients with pk deficiency
    van Oirschot, Brigitte A.
    van Solinge, Wouter W.
    van Wijk, Richard
    CLINICAL BIOCHEMISTRY, 2009, 42 (18) : 1859 - 1859
  • [4] PYRUVATE-KINASE (PK) DEFICIENCY IN JORDAN
    KARADSHEH, NS
    HAEMATOLOGICA, 1993, 78 (02) : 80 - 83
  • [5] 2 CASES OF PYRUVATE-KINASE DEFICIENCY - PK KAMAKURA AND PK NANIWA
    TAKEGAWA, S
    FUJII, H
    TAKAHASHI, K
    MORISAKI, T
    HIRONO, A
    TAKIZAWA, T
    KANNO, H
    TSUJINO, G
    MIWA, S
    ACTA HAEMATOLOGICA JAPONICA, 1985, 48 (06): : 1332 - 1336
  • [6] 4 NEW PYRUVATE-KINASE (PK) VARIANTS AND A CLASSICAL PK DEFICIENCY
    MIWA, S
    NAKASHIMA, K
    ARIYOSHI, K
    SHINOHARA, K
    ODA, E
    TANAKA, T
    BRITISH JOURNAL OF HAEMATOLOGY, 1975, 29 (01) : 157 - 169
  • [7] METABOLIC VULNERABILITY OF RETICULOCYTES IN PYRUVATE KINASE (PK) DEFICIENCY
    MENTZER, WC
    BAEHNER, RL
    SCHMIDTS.H
    NATHAN, DG
    BLOOD-THE JOURNAL OF HEMATOLOGY, 1969, 34 (06): : 861 - &
  • [8] TRANSIENT PYRUVATE-KINASE (PK) DEFICIENCY IN NEWBORNS
    VALAES, T
    TSOCHATZISYIANNOPOULOS, K
    KARAKLIS, A
    NECHELES, TF
    PEDIATRIC RESEARCH, 1975, 9 (04) : 327 - 327
  • [9] 2 HOMOZYGOUS CASES OF ERYTHROCYTE PYRUVATE-KINASE (PK) DEFICIENCY IN JAPAN - PK SENDAI AND PK SHINSHU
    TANI, K
    TSUTSUMI, H
    TAKAHASHI, K
    OGURA, H
    KANNO, H
    HAYASAKA, K
    NARISAWA, K
    NAKAHATA, T
    AKABANE, T
    MORISAKI, T
    FUJII, H
    MIWA, S
    AMERICAN JOURNAL OF HEMATOLOGY, 1988, 28 (03) : 186 - 190
  • [10] Validation of the Pyruvate Kinase Deficiency Diary (PKDD): A PatientReported Outcome Measure for Pyruvate Kinase (PK) Deficiency
    Egan, Shayna
    Zagadailov, Erin
    Jewett, Adrian
    Li, Junlong
    Tai, Feng
    Boscoe, Audra
    Andrae, David A.
    BLOOD, 2021, 138