-
2
-
-
0027394452
-
Zinc protoporphyrin in anemia of chronic disorders
-
Hastka J , Lasserre JJ , Schwarzbeck A , Strauch M , Hehlmann R. ( 1993) Zinc protoporphyrin in anemia of chronic disorders. Blood , 81 , 1200-1204.
-
(1993)
Blood
, vol.81
, pp. 1200-1204
-
-
Hastka, J.1
Lasserre, J.J.2
Schwarzbeck, A.3
Strauch, M.4
Hehlmann, R.5
-
3
-
-
0035220962
-
Discriminating between iron deficiency anemia and anemia of chronic disease using traditional indices of iron status vs transferrin receptor concentration
-
Wians FH Jr , Urban JE , Keffer JH , Kroft SH. ( 2001) Discriminating between iron deficiency anemia and anemia of chronic disease using traditional indices of iron status vs transferrin receptor concentration. American Journal of Clinical Pathology , 115 , 112-118.
-
(2001)
American Journal of Clinical Pathology
, vol.115
, pp. 112-118
-
-
Wians Jr., F.H.1
Urban, J.E.2
Keffer, J.H.3
Kroft, S.H.4
-
4
-
-
34347219438
-
Anti -interleukin 6 receptor antibody tocilizumab reduces the level of serum hepcidin in patients with multicentric Castleman ' s disease
-
Kawabata H , Tomosugi N , Kanda J , Tanaka Y , Yoshizaki K , Uchiyama T. ( 2007 ) Anti -interleukin 6 receptor antibody tocilizumab reduces the level of serum hepcidin in patients with multicentric Castleman ' s disease. Haematologica , 92 , 857-858.
-
(2007)
Haematologica
, vol.92
, pp. 857-858
-
-
Kawabata, H.1
Tomosugi, N.2
Kanda, J.3
Tanaka, Y.4
Yoshizaki, K.5
Uchiyama, T.6
-
5
-
-
23944502314
-
Time -course analysis of hepcidin, serum iron, and plasma cytokine levels in humans injected with LPS
-
Kemna E , Pickkers P , Nemeth E , van der Hoeven H , Swinkels D. ( 2005) Time -course analysis of hepcidin, serum iron, and plasma cytokine levels in humans injected with LPS. Blood , 106 , 1864-1866.
-
(2005)
Blood
, vol.106
, pp. 1864-1866
-
-
Kemna, E.1
Pickkers, P.2
Nemeth, E.3
van der Hoeven, H.4
Swinkels, D.5
-
6
-
-
2342510407
-
IL -6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin
-
Nemeth E , Rivera S , Gabayan V et al. ( 2004) IL -6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin. Journal of Clinical Investigation , 113 , 1271-1276.
-
(2004)
Journal of Clinical Investigation
, vol.113
, pp. 1271-1276
-
-
Nemeth, E.1
Rivera, S.2
Gabayan, V.3
-
7
-
-
24744458603
-
Synthetic hepcidin causes rapid dose -dependent hypoferremia and is concentrated in ferroportin -containing organs
-
Rivera S , Nemeth E , Gabayan V , Lopez MA , Farshidi D , Ganz T. ( 2005) Synthetic hepcidin causes rapid dose -dependent hypoferremia and is concentrated in ferroportin -containing organs. Blood , 106 , 2196-2199.
-
(2005)
Blood
, vol.106
, pp. 2196-2199
-
-
Rivera, S.1
Nemeth, E.2
Gabayan, V.3
Lopez, M.A.4
Farshidi, D.5
Ganz, T.6
-
9
-
-
34247366783
-
Hepcidin antimicrobial peptide transgenic mice exhibit features of the anemia of inflammation
-
Roy CN , Mak HH , Akpan I , Losyev G , Zurakowski D , Andrews NC. ( 2007 ) Hepcidin antimicrobial peptide transgenic mice exhibit features of the anemia of inflammation. Blood , 109 , 4038-4044.
-
(2007)
Blood
, vol.109
, pp. 4038-4044
-
-
Roy, C.N.1
Mak, H.H.2
Akpan, I.3
Losyev, G.4
Zurakowski, D.5
Andrews, N.C.6
-
10
-
-
0037111732
-
Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease
-
Weinstein DA , Roy CN , Fleming MD , Loda MF , Wolfsdorf JI , Andrews NC. ( 2002 ) Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. Blood , 100 , 3776-3781.
-
(2002)
Blood
, vol.100
, pp. 3776-3781
-
-
Weinstein, D.A.1
Roy, C.N.2
Fleming, M.D.3
Loda, M.F.4
Wolfsdorf, J.I.5
Andrews, N.C.6
-
11
-
-
0024787027
-
The anemia of chronic disease: spectrum of associated diseases in a series of unselected hospitalized patients
-
Cash JM , Sears DA. ( 1989 ) The anemia of chronic disease: spectrum of associated diseases in a series of unselected hospitalized patients. American Journal of Medicine , 87 , 638-644.
-
(1989)
American Journal of Medicine
, vol.87
, pp. 638-644
-
-
Cash, J.M.1
Sears, D.A.2
-
12
-
-
0030015099
-
Defective iron supply for erythropoiesis and adequate endogenous erythropoietin production in the anemia associated with systemic -onset juvenile chronic arthritis
-
Cazzola M , Ponchio L , de Benedetti F et al. ( 1996 ) Defective iron supply for erythropoiesis and adequate endogenous erythropoietin production in the anemia associated with systemic -onset juvenile chronic arthritis. Blood , 87 , 4824-4830.
-
(1996)
Blood
, vol.87
, pp. 4824-4830
-
-
Cazzola, M.1
Ponchio, L.2
de Benedetti, F.3
-
13
-
-
0033847343
-
Anemia of the critically ill: " acute " anemia of chronic disease
-
Corwin HL , Krantz SB. ( 2000) Anemia of the critically ill: " acute " anemia of chronic disease. Critical Care Medicine , 28 , 3098-3099.
-
(2000)
Critical Care Medicine
, vol.28
, pp. 3098-3099
-
-
Corwin, H.L.1
Krantz, S.B.2
-
14
-
-
0033847343
-
Anemia of the critically ill: " acute " anemia of chronic disease
-
Corwin HL , Krantz SB. ( 2000) Anemia of the critically ill: " acute " anemia of chronic disease. Critical Care Medicine , 28 , 3098-3099.
-
(2000)
Critical Care Medicine
, vol.28
, pp. 3098-3099
-
-
Corwin, H.L.1
Krantz, S.B.2
-
15
-
-
47249142777
-
Iron-sulfur cluster biogenesis and human disease
-
Rouault TA , Tong WH. ( 2008) Iron-sulfur cluster biogenesis and human disease. Trends in Genetics , 24 , 398-407.
-
(2008)
Trends in Genetics
, vol.24
, pp. 398-407
-
-
Rouault, T.A.1
Tong, W.H.2
-
16
-
-
0018712317
-
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction
-
Pearson HA , Lobel GS , Kocoshis SA et al. ( 1979) A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. Journal of Pediatrics , 6 , 976-984.
-
(1979)
Journal of Pediatrics
, vol.6
, pp. 976-984
-
-
Pearson, H.A.1
Lobel, G.S.2
Kocoshis, S.A.3
-
17
-
-
0029147133
-
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome
-
Rotig A , Bourgeron T , Chretien D , Rustin P , Munnich A. ( 1995) Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Human Molecular Genetics , 4 , 1327-1330.
-
(1995)
Human Molecular Genetics
, vol.4
, pp. 1327-1330
-
-
Rotig, A.1
Bourgeron, T.2
Chretien, D.3
Rustin, P.4
Munnich, A.5
-
18
-
-
0029147133
-
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome
-
Rotig A , Bourgeron T , Chretien D , Rustin P , Munnich A. ( 1995) Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Human Molecular Genetics , 4 , 1327-1330.
-
(1995)
Human Molecular Genetics
, vol.4
, pp. 1327-1330
-
-
Rotig, A.1
Bourgeron, T.2
Chretien, D.3
Rustin, P.4
Munnich, A.5
-
19
-
-
0037006957
-
Acquired aplastic anemia
-
Young NS. ( 2002) Acquired aplastic anemia. Annals of Internal Medicine , 136 , 534-546.
-
(2002)
Annals of Internal Medicine
, vol.136
, pp. 534-546
-
-
Young, N.S.1
-
20
-
-
0029059073
-
The treatment of severe acquired aplastic anemia
-
Young NS , Barrett AJ. ( 1995 ) The treatment of severe acquired aplastic anemia. B lood , 85 , 3367-3377.
-
(1995)
B lood
, vol.85
, pp. 3367-3377
-
-
Young, N.S.1
Barrett, A.J.2
-
23
-
-
33745904714
-
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency
-
Almeida AM , Murakami Y , Layton DM et al. ( 2006) Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nature Medicine , 12 , 846-851.
-
(2006)
Nature Medicine
, vol.12
, pp. 846-851
-
-
Almeida, A.M.1
Murakami, Y.2
Layton, D.M.3
-
24
-
-
0033609114
-
Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals
-
Araten DJ , Nafa K , Pakdeesuwan K , Luzzatto L. ( 1999) Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. Proceedings of the National Academy of Sciences of the United States of America , 96 , 5209-5214.
-
(1999)
Proceedings of the National Academy of Sciences of the United States of America
, vol.96
, pp. 5209-5214
-
-
Araten, D.J.1
Nafa, K.2
Pakdeesuwan, K.3
Luzzatto, L.4
-
25
-
-
33748904355
-
The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria
-
Hillmen P , Young NS , Schubert J et al. ( 2006) The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria. New England Journal of Medicine , 355 , 1233-1243.
-
(2006)
New England Journal of Medicine
, vol.355
, pp. 1233-1243
-
-
Hillmen, P.1
Young, N.S.2
Schubert, J.3
-
26
-
-
0029887115
-
The dual pathogenesis of paroxysmal nocturnal hemoglobinuria
-
Luzzatto L , Bessler M. ( 1996) The dual pathogenesis of paroxysmal nocturnal hemoglobinuria. Seminars in Hematology , 3 , 101-110.
-
(1996)
Seminars in Hematology
, vol.3
, pp. 101-110
-
-
Luzzatto, L.1
Bessler, M.2
-
27
-
-
0027310539
-
Deficiency of the GPI anchor caused by a somatic mutation of the PIG -A gene in paroxysmal nocturnal hemoglobinuria
-
Takeda J , Miyata T , Kawagoe K et al. ( 1993 ) Deficiency of the GPI anchor caused by a somatic mutation of the PIG -A gene in paroxysmal nocturnal hemoglobinuria. Cell , 73 , 703-711.
-
(1993)
Cell
, vol.73
, pp. 703-711
-
-
Takeda, J.1
Miyata, T.2
Kawagoe, K.3
-
28
-
-
0001652428
-
-
Nathan DG , Orkin SH (eds). Nathan and Oski ' s Hematology of Infancy and Childhood , 5th edn. Philadelphia: WB Saunders
-
Alter B , Young NS. ( 1998) The bone marrow failure syndromes. In: Nathan DG , Orkin SH (eds). Nathan and Oski ' s Hematology of Infancy and Childhood , 5th edn. Philadelphia: WB Saunders, pp. 237-335.
-
(1998)
The bone marrow failure syndromes
, pp. 237-335
-
-
Alter, B.1
Young, N.S.2
-
29
-
-
4043133287
-
ATR couples FANCD2 monoubiquitination to the DNA -damage response
-
Andreassen PR , D'Andrea AD , Taniguchi T. ( 2004) ATR couples FANCD2 monoubiquitination to the DNA -damage response. Genes and Development , 18 , 1958-1963.
-
(2004)
Genes and Development
, vol.18
, pp. 1958-1963
-
-
Andreassen, P.R.1
D'Andrea, A.D.2
Taniguchi, T.3
-
30
-
-
55249090457
-
Chromatin recruitment of DNA repair proteins: lessons from the Fanconi anemia and double -strand break repair pathways
-
Cohn MA , D'Andrea AD. ( 2008) Chromatin recruitment of DNA repair proteins: lessons from the Fanconi anemia and double -strand break repair pathways. Molecular Cell , 32 , 306-312.
-
(2008)
Molecular Cell
, vol.32
, pp. 306-312
-
-
Cohn, M.A.1
D'Andrea, A.D.2
-
31
-
-
0035105291
-
Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway
-
Garcia-Higuera I , Taniguchi T , Ganesan S et al. ( 2001) Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Molecular Cell , 7 , 249-262.
-
(2001)
Molecular Cell
, vol.7
, pp. 249-262
-
-
Garcia-Higuera, I.1
Taniguchi, T.2
Ganesan, S.3
-
32
-
-
18444362122
-
Biallelic inactivation of BRCA2 in Fanconi anemia
-
Howlett NG , Taniguchi T , Olson S et al. ( 2002 ) Biallelic inactivation of BRCA2 in Fanconi anemia. Science , 297 , 606-609.
-
(2002)
Science
, vol.297
, pp. 606-609
-
-
Howlett, N.G.1
Taniguchi, T.2
Olson, S.3
-
33
-
-
0035379611
-
The emerging genetic and molecular basis of Fanconi anaemia
-
Joenje H , Patel KJ. ( 2001) The emerging genetic and molecular basis of Fanconi anaemia. Nature Reviews. Genetics , 2 , 446-459.
-
(2001)
Nature Reviews. Genetics
, vol.2
, pp. 446-459
-
-
Joenje, H.1
Patel, K.J.2
-
34
-
-
25144457604
-
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
-
Levitus M , Waisfisz Q , Godthelp BC et al. ( 2005 ) The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nature Genetics , 37 , 934-935.
-
(2005)
Nature Genetics
, vol.37
, pp. 934-935
-
-
Levitus, M.1
Waisfisz, Q.2
Godthelp, B.C.3
-
35
-
-
24944575242
-
BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ
-
Litman R , Peng M , Jin Z et al. ( 2005 ) BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. Cancer Cell , 8 , 255-265.
-
(2005)
Cancer Cell
, vol.8
, pp. 255-265
-
-
Litman, R.1
Peng, M.2
Jin, Z.3
-
36
-
-
25144449181
-
A human ortholog of archaeal DNA repair protein HEF is defective in Fanconi anemia complementation group M
-
Meetei AR , Medhurst AL , Ling C et al. ( 2005) A human ortholog of archaeal DNA repair protein HEF is defective in Fanconi anemia complementation group M. Nature Genetics , 37 , 958-963.
-
(2005)
Nature Genetics
, vol.37
, pp. 958-963
-
-
Meetei, A.R.1
Medhurst, A.L.2
Ling, C.3
-
37
-
-
26944499485
-
The vertebrate Hef ortholog is a component of the Fanconi anemia tumor -suppressor pathway
-
Mosedale G , Niedzwiedz W , Alpi A et al. ( 2005 ) The vertebrate Hef ortholog is a component of the Fanconi anemia tumor -suppressor pathway. Nature Structural and Molecular Biology , 12 , 763-771.
-
(2005)
Nature Structural and Molecular Biology
, vol.12
, pp. 763-771
-
-
Mosedale, G.1
Niedzwiedz, W.2
Alpi, A.3
-
38
-
-
4344597147
-
The Fanconi anaemia gene FANCC promotes homologous recombination and error -prone DNA repair
-
Niedzwiedz W , Mosedale G , Johnson M , Ong CY , Pace P , Patel KJ. ( 2004 ) The Fanconi anaemia gene FANCC promotes homologous recombination and error -prone DNA repair. Molecular Cell , 15 , 607-620.
-
(2004)
Molecular Cell
, vol.15
, pp. 607-620
-
-
Niedzwiedz, W.1
Mosedale, G.2
Johnson, M.3
Ong, C.Y.4
Pace, P.5
Patel, K.J.6
-
39
-
-
1842576658
-
The DNA crosslink -induced S -phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathways
-
Pichierri P , Rosselli F. ( 2004 ) The DNA crosslink -induced S -phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathways. EMBO Journal , 23 , 1178-1187.
-
(2004)
EMBO Journal
, vol.23
, pp. 1178-1187
-
-
Pichierri, P.1
Rosselli, F.2
-
40
-
-
0026521238
-
Cloning of cDNAs for Fanconi ' s anaemia by functional complementation
-
Strathdee CA , Gavish H , Shannon WR , Buchwald M. ( 1992) Cloning of cDNAs for Fanconi ' s anaemia by functional complementation. Nature , 356 , 763-767.
-
(1992)
Nature
, vol.356
, pp. 763-767
-
-
Strathdee, C.A.1
Gavish, H.2
Shannon, W.R.3
Buchwald, M.4
-
41
-
-
1942502234
-
Tracing the network connecting BRCA and Fanconi anaemia proteins
-
Venkitaraman AR. ( 2004 ) Tracing the network connecting BRCA and Fanconi anaemia proteins. Nature Reviews. Cancer , 4 , 266-276.
-
(2004)
Nature Reviews. Cancer
, vol.4
, pp. 266-276
-
-
Venkitaraman, A.R.1
-
42
-
-
34548759123
-
Emergence of a DNA -damage response network consisting of Fanconi anaemia and BRCA proteins
-
Wang W. ( 2007) Emergence of a DNA -damage response network consisting of Fanconi anaemia and BRCA proteins. Nature Reviews. Genetics , 8 , 735-748.
-
(2007)
Nature Reviews. Genetics
, vol.8
, pp. 735-748
-
-
Wang, W.1
-
43
-
-
2942705849
-
Functional interaction of monoubiquitinated FANCD2 and BRCA2 / FANCD1 in chromatin
-
Wang X , Andreassen PR , D ' Andrea AD. ( 2004 ) Functional interaction of monoubiquitinated FANCD2 and BRCA2 / FANCD1 in chromatin. Molecular and Cellular Biology , 24 , 5850-5862.
-
(2004)
Molecular and Cellular Biology
, vol.24
, pp. 5850-5862
-
-
Wang, X.1
Andreassen, P.R.2
D'Andrea, A.D.3
-
44
-
-
33846601829
-
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
-
Xia B , Dorsman JC , Ameziane N et al. ( 2007 ) Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nature Genetics , 39 , 159-161.
-
(2007)
Nature Genetics
, vol.39
, pp. 159-161
-
-
Xia, B.1
Dorsman, J.C.2
Ameziane, N.3
-
45
-
-
0043092640
-
Fanconi anemia FANCG protein in mitigating radiation -and enzyme -induced DNA double -strand breaks by homologous recombination in vertebrate cells
-
Yamamoto K , Ishiai M , Matsushita N et al. ( 2003) Fanconi anemia FANCG protein in mitigating radiation -and enzyme -induced DNA double -strand breaks by homologous recombination in vertebrate cells. Molecular and Cellular Biology , 23 , 5421-5430.
-
(2003)
Molecular and Cellular Biology
, vol.23
, pp. 5421-5430
-
-
Yamamoto, K.1
Ishiai, M.2
Matsushita, N.3
-
46
-
-
33745849998
-
The structure and function of telomerase reverse transcriptase
-
Autexier C , Lue NF. ( 2006) The structure and function of telomerase reverse transcriptase. Annual Review of Biochemistry , 75 , 493-517.
-
(2006)
Annual Review of Biochemistry
, vol.75
, pp. 493-517
-
-
Autexier, C.1
Lue, N.F.2
-
47
-
-
0031799895
-
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
-
Heiss NS , Knight SW , Vulliamy JT et al. ( 1998) X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nature Genetics , 19 , 32-38.
-
(1998)
Nature Genetics
, vol.19
, pp. 32-38
-
-
Heiss, N.S.1
Knight, S.W.2
Vulliamy, J.T.3
-
48
-
-
38349144367
-
Dyskeratosis congenita: a genetic disorder of many faces
-
Kirwan M , Dokal I. ( 2008) Dyskeratosis congenita: a genetic disorder of many faces. Clinical Genetics , 73 , 103-112.
-
(2008)
Clinical Genetics
, vol.73
, pp. 103-112
-
-
Kirwan, M.1
Dokal, I.2
-
49
-
-
0033518188
-
A telomerase component is defective in the human disease dyskeratosis congenita
-
Mitchell JR , Wood E , Collins K. ( 1999 ) A telomerase component is defective in the human disease dyskeratosis congenita. Nature , 402 , 551-555.
-
(1999)
Nature
, vol.402
, pp. 551-555
-
-
Mitchell, J.R.1
Wood, E.2
Collins, K.3
-
50
-
-
0035960043
-
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
-
Vulliamy T , Marrone A , Goldman F et al. ( 2001 ) The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. N ature , 413 , 432-435.
-
(2001)
N ature
, vol.413
, pp. 432-435
-
-
Vulliamy, T.1
Marrone, A.2
Goldman, F.3
-
51
-
-
0035960043
-
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
-
Vulliamy T , Marrone A , Goldman F et al. ( 2001 ) The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. N ature , 413 , 432-435.
-
(2001)
N ature
, vol.413
, pp. 432-435
-
-
Vulliamy, T.1
Marrone, A.2
Goldman, F.3
-
52
-
-
0032907438
-
The gene encoding ribosomal protein S19 is mutated in Diamond -Blackfan anaemia
-
Draptchinskaia N , Gustavsson P , Andersson B et al. ( 1999) The gene encoding ribosomal protein S19 is mutated in Diamond -Blackfan anaemia. Nature Genetics , 21 , 169-175.
-
(1999)
Nature Genetics
, vol.21
, pp. 169-175
-
-
Draptchinskaia, N.1
Gustavsson, P.2
Andersson, B.3
-
53
-
-
50649104789
-
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond -Blackfan anemia
-
Farrar E , Nater M , Caywood E et al. ( 2008) Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond -Blackfan anemia. Blood , 112 , 1582-1592.
-
(2008)
Blood
, vol.112
, pp. 1582-1592
-
-
Farrar, E.1
Nater, M.2
Caywood, E.3
-
54
-
-
50049093522
-
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
-
Vlachos A , Ball S , Dahl N et al. ( 2008 ) Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. British Journal of Haematology , 142 , 859-876.
-
(2008)
British Journal of Haematology
, vol.142
, pp. 859-876
-
-
Vlachos, A.1
Ball, S.2
Dahl, N.3
-
55
-
-
0025965939
-
Glucose-6-phosphate dehydrogenase deficiency
-
Beutler E. ( 1994) Glucose-6-phosphate dehydrogenase deficiency. New England Journal of Medicine , 324 , 169-174.
-
(1994)
New England Journal of Medicine
, vol.324
, pp. 169-174
-
-
Beutler, E.1
-
56
-
-
84885772896
-
-
Scriver CR , Beaudet AL , Sly WS , Valle D (eds). The Metabolic and Molecular Basis of Inherited Disease , 8th edn. New York : McGraw -Hill
-
Hirono A , Kanno H , Miwa S , Beutler E ( 2001) Pyruvate deficiency and other enzymopathies of the erythrocyte. In: Scriver CR , Beaudet AL , Sly WS , Valle D (eds). The Metabolic and Molecular Basis of Inherited Disease , 8th edn. New York : McGraw -Hill , pp. 4637-4664.
-
(2001)
Pyruvate deficiency and other enzymopathies of the erythrocyte
, pp. 4637-4664
-
-
Hirono, A.1
Kanno, H.2
Miwa, S.3
Beutler, E.4
-
57
-
-
0001585429
-
-
Scriver CR , Beaudet AL , Sly WS , Valle D (eds). The Metabolic and Molecular Basis of Inherited Disease , 8th edn. New York : McGraw -Hill
-
Luzzatto L , Mehta A , Vulliamy T. ( 2001) Glucose-6-phosphate dehydrogenase deficiency. In: Scriver CR , Beaudet AL , Sly WS , Valle D (eds). The Metabolic and Molecular Basis of Inherited Disease , 8th edn. New York : McGraw -Hill , pp. 4517-4553.
-
(2001)
Glucose-6-phosphate dehydrogenase deficiency
, pp. 4517-4553
-
-
Luzzatto, L.1
Mehta, A.2
Vulliamy, T.3
-
58
-
-
0011672776
-
-
Nathan DG , Orkin SH (eds). Nathan and Oski ' s Hematology of Infancy and Childhood , 5th edn. Philadelphia: WB Saunders
-
Mentzer WC. ( 1998) Pyruvate kinase deficiency and disorders of glycolysis. In: Nathan DG , Orkin SH (eds). Nathan and Oski ' s Hematology of Infancy and Childhood , 5th edn. Philadelphia: WB Saunders, pp. 665-703.
-
(1998)
Pyruvate kinase deficiency and disorders of glycolysis
, pp. 665-703
-
-
Mentzer, W.C.1
|