-
1
-
-
0001585429
-
Glucose-6-phosphate dehydrogenase deficiency
-
C.R. Scriver A.L. Beaudet W.S. Sly D. Valle (eds). 8 McGraw-Hill New York
-
Luzzatto L, Mehta A, Vulliamy T (2001) Glucose-6-phosphate dehydrogenase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic & molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 4517-4554
-
(2001)
The Metabolic & Molecular Bases of Inherited Disease
, pp. 4517-4554
-
-
Luzzatto, L.1
Mehta, A.2
Vulliamy, T.3
-
2
-
-
0031213525
-
Hematologically important mutations: Glucose-6-phosphate dehydrogenase
-
DOI 10.1006/bcmd.1997.0147
-
T Vulliamy L Luzzatto A Hirono E Beutler 1997 Hematologically important mutations: glucose-6-phosphate dehydrogenase Blood Cell Mol Dis 23 302 313 10.1006/bcmd.1997.0147 1:CAS:528:DyaK2sXnt1eis7k%3D (Pubitemid 27469465)
-
(1997)
Blood Cells, Molecules and Diseases
, vol.23
, Issue.2
, pp. 302-313
-
-
Vulliamy, T.1
Luzzatto, L.2
Hirono, A.3
Beutler, E.4
-
3
-
-
0015170235
-
Human glucose-6-phosphate dehydrogenase variants
-
5316621 1:CAS:528:DyaE38XntVOjsA%3D%3D
-
A Yoshida E Beutler AG Motulsky 1971 Human glucose-6-phosphate dehydrogenase variants Bull WHO 45 243 253 5316621 1:CAS:528: DyaE38XntVOjsA%3D%3D
-
(1971)
Bull WHO
, vol.45
, pp. 243-253
-
-
Yoshida, A.1
Beutler, E.2
Motulsky, A.G.3
-
4
-
-
0014349392
-
Thai variant and the distribution of alleles of 6 phospho-gluconate dehydrogenase and the distribution of glucose-6-phosphate dehydrogenase deficiency in Thailand
-
5715190 10.1007/BF01474765 1:STN:280:DyaF1M7jt1Gktw%3D%3D
-
S Tuchinda DL Rucknagel S Na-Nakorn P Wasi 1968 Thai variant and the distribution of alleles of 6 phospho-gluconate dehydrogenase and the distribution of glucose-6-phosphate dehydrogenase deficiency in Thailand Biochem Genet 2 253 264 5715190 10.1007/BF01474765 1:STN:280:DyaF1M7jt1Gktw%3D%3D
-
(1968)
Biochem Genet
, vol.2
, pp. 253-264
-
-
Tuchinda, S.1
Rucknagel, D.L.2
Na-Nakorn, S.3
Wasi, P.4
-
5
-
-
0019627835
-
Glucose-6-phosphate dehydrogenase deficiency
-
7030553 1:STN:280:DyaL38%2FntV2ltQ%3D%3D
-
V Panich 1981 Glucose-6-phosphate dehydrogenase deficiency Clin Haematol 10 800 814 7030553 1:STN:280:DyaL38%2FntV2ltQ%3D%3D
-
(1981)
Clin Haematol
, vol.10
, pp. 800-814
-
-
Panich, V.1
-
6
-
-
0029443747
-
Prevalence of hemoglobin E, alpha-thalassemia and glucose-6-phosphate dehydrogenase deficiency in 1, 000 cord bloods studied in Bangkok
-
8629122
-
VS Tanphaichitr C Mahasandana V Suvatte S Yodthong P Pung-amritt J Seeloem 1995 Prevalence of hemoglobin E, alpha-thalassemia and glucose-6-phosphate dehydrogenase deficiency in 1, 000 cord bloods studied in Bangkok Southeast Asian J Trop Med Public Health 26 Suppl 1 271 274 8629122
-
(1995)
Southeast Asian J Trop Med Public Health
, vol.26
, Issue.SUPPL. 1
, pp. 271-274
-
-
Tanphaichitr, V.S.1
Mahasandana, C.2
Suvatte, V.3
Yodthong, S.4
Pung-Amritt, P.5
Seeloem, J.6
-
7
-
-
0036481467
-
Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population
-
10.1002/humu.9010 11793482 10.1002/humu.9010 1:STN:280: DC%2BD38%2FmvVegtg%3D%3D
-
I Nuchprayoon S Sanpavat S Nuchprayoon 2002 Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population Hum Mutat 19 185 10.1002/humu.9010 11793482 10.1002/humu.9010 1:STN:280:DC%2BD38%2FmvVegtg%3D%3D
-
(2002)
Hum Mutat
, vol.19
, pp. 185
-
-
Nuchprayoon, I.1
Sanpavat, S.2
Nuchprayoon, S.3
-
8
-
-
0014508664
-
G-6PD Bangkok: A new variant found in congenital nonspherocytic hemolytic disease (CNSHD)
-
5779160 1:STN:280:DyaF1M7mt1Oisg%3D%3D
-
P Talalak E Beutler 1969 G-6PD Bangkok: a new variant found in congenital nonspherocytic hemolytic disease (CNSHD) Blood 33 772 776 5779160 1:STN:280:DyaF1M7mt1Oisg%3D%3D
-
(1969)
Blood
, vol.33
, pp. 772-776
-
-
Talalak, P.1
Beutler, E.2
-
10
-
-
0017347447
-
International committee for standardization in haematology: Recommended methods for red cell enzyme analysis
-
E Beutler KG Blume JC Kaplan, et al. 1977 International committee for standardization in haematology. recommended methods for red-cell enzyme analysis Br J Haematol 35 331 340 857853 10.1111/j.1365-2141.1977.tb00589.x 1:CAS:528:DyaE2sXhsFWrurw%3D (Pubitemid 8048257)
-
(1977)
British Journal of Haematology
, vol.35
, Issue.2
, pp. 331-340
-
-
Beutler, E.1
Blume, K.G.2
Kaplan, J.C.3
-
11
-
-
0028339178
-
Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic single-strand conformation polymorphism analysis
-
A Hirono S Miwa H Fujii F Ishida K Yamada K Kubota 1994 Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by non-radioisotopic single-strand conformation polymorphism analysis Blood 83 3363 3368 8193373 1:CAS:528:DyaK2MXhsFGmsw%3D%3D (Pubitemid 24158486)
-
(1994)
Blood
, vol.83
, Issue.11
, pp. 3363-3368
-
-
Hirono, A.1
Miwa, S.2
Fujii, H.3
Ishida, F.4
Yamada, K.5
Kubota, K.6
-
12
-
-
0028885341
-
Multiple glucose-6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (Southwestern Pacific)
-
7825590 1:CAS:528:DyaK2MXktlWrtL8%3D
-
M Ganczakowski M Town DK Bowden, et al. 1995 Multiple glucose-6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (Southwestern Pacific) Am J Hum Genet 56 294 301 7825590 1:CAS:528:DyaK2MXktlWrtL8%3D
-
(1995)
Am J Hum Genet
, vol.56
, pp. 294-301
-
-
Ganczakowski, M.1
Town, M.2
Bowden, D.K.3
-
13
-
-
17844388327
-
Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia
-
DOI 10.1007/s004390100527
-
K Iwai A Hirono H Matsuoka, et al. 2001 Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia Hum Genet 108 445 449 11499668 10.1007/s004390100527 1:CAS:528:DC%2BD3MXkvVWlu7Y%3D (Pubitemid 32700345)
-
(2001)
Human Genetics
, vol.108
, Issue.6
, pp. 445-449
-
-
Iwai, K.1
Hirono, A.2
Matsuoka, H.3
Kawamoto, F.4
Horie, T.5
Lin, K.6
Tantular, I.S.7
Dachlan, Y.P.8
Notopuro, H.9
Hidayah, N.I.10
Salim, A.M.A.11
Fujii, H.12
Miwa, S.13
Ishii, A.14
-
14
-
-
33744981421
-
Coexistence of five G6PD variants indicates ethnic complexity of Phuket islanders, Southern Thailand
-
DOI 10.1007/s10038-006-0380-y
-
A Ninokata R Kimura U Samakkarn W Settheetham-Ishida T Ishida 2006 Coexistence of five G6PD variants indicates ethnic complexity of Phuket Islanders, Southern Thailand J Hum Genet 51 5 424 428 16528451 10.1007/s10038-006-0380-y (Pubitemid 43863778)
-
(2006)
Journal of Human Genetics
, vol.51
, Issue.5
, pp. 424-428
-
-
Ninokata, A.1
Kimura, R.2
Samakkarn, U.3
Settheetham-Ishida, W.4
Ishida, T.5
-
15
-
-
0025605094
-
G6PD Canton: A common deficient variant in South East Asia caused by a 459 Arg → Leu mutation
-
2263506 10.1093/nar/18.23.7190 1:CAS:528:DyaK3MXls1Ogug%3D%3D
-
DJ Stevens W Wanachiwanawin PJ Mason TJ Vulliamy L Luzzatto 1990 G6PD Canton: a common deficient variant in South East Asia caused by a 459 Arg → Leu mutation Nucleic Acids Res 18 7190 2263506 10.1093/nar/18.23.7190 1:CAS:528:DyaK3MXls1Ogug%3D%3D
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 7190
-
-
Stevens, D.J.1
Wanachiwanawin, W.2
Mason, P.J.3
Vulliamy, T.J.4
Luzzatto, L.5
-
16
-
-
0030031242
-
Neonatal jaundice and molecular mutations in glucose-6-phosphate dehydrogenase deficient newborn infants
-
DOI 10.1002/(SICI)1096-8652(199601)51:1<19::AID-AJH4>3.0.CO;2-A
-
CS Huang KL Hung MJ Huang YC Li TH Liu 1996 Neonatal jaundice and molecular mutations in glucose-6-phosphate dehydrogenase deficient newborn infants Am J Hematol 51 19 25 8571933 10.1002/(SICI)1096-8652(199601)51:1<19: :AID-AJH4>3.0.CO;2-A 1:CAS:528:DyaK28XhsVSjtLY%3D (Pubitemid 26041506)
-
(1996)
American Journal of Hematology
, vol.51
, Issue.1
, pp. 19-25
-
-
Huang, C.-S.1
Hung, K.-L.2
Huang, M.-J.3
Li, Y.-C.4
Liu, T.-H.5
Tang, T.K.6
-
17
-
-
0033254047
-
Hemolytic crisis after excessive ingestion of fava beans in a male infant with G6PD Canton
-
10643148 1:STN:280:DC%2BD3c7gslOlsg%3D%3D
-
A Shibuya A Hirono S Ishii H Fujii S Miwa 1999 Hemolytic crisis after excessive ingestion of fava beans in a male infant with G6PD Canton Int J Hematol 70 233 235 10643148 1:STN:280:DC%2BD3c7gslOlsg%3D%3D
-
(1999)
Int J Hematol
, vol.70
, pp. 233-235
-
-
Shibuya, A.1
Hirono, A.2
Ishii, S.3
Fujii, H.4
Miwa, S.5
-
18
-
-
7144223296
-
Gene action in the X-chromosome of the mouse (Mus musculus L.)
-
13764598 10.1038/190372a0 1:STN:280:DyaF3c%2FosVGksw%3D%3D
-
MF Lyon 1961 Gene action in the X-chromosome of the mouse (Mus musculus L.) Nature 190 372 373 13764598 10.1038/190372a0 1:STN:280: DyaF3c%2FosVGksw%3D%3D
-
(1961)
Nature
, vol.190
, pp. 372-373
-
-
Lyon, M.F.1
-
19
-
-
0002826398
-
The normal human female as a mosaic of X-chromosome activity: Studies using the gene for G-6-PD deficiency as a marker
-
13868717 10.1073/pnas.48.1.9 1:CAS:528:DyaF38Xns1SksA%3D%3D
-
E Beutler M Yeh VF Fairbanks 1962 The normal human female as a mosaic of X-chromosome activity: studies using the gene for G-6-PD deficiency as a marker Proc Natl Acad Sci USA 48 9 16 13868717 10.1073/pnas.48.1.9 1:CAS:528: DyaF38Xns1SksA%3D%3D
-
(1962)
Proc Natl Acad Sci USA
, vol.48
, pp. 9-16
-
-
Beutler, E.1
Yeh, M.2
Fairbanks, V.F.3
-
20
-
-
0345011407
-
X-inactivation in females heterozygous for G-6-PD variants
-
A. Yoshida E. Beutler (eds). Academic New York
-
Beutler E (1986) X-inactivation in females heterozygous for G-6-PD variants. In: Yoshida A, Beutler E (eds) Glucose-6-Phosphate dehydrogenase. Academic, New York, pp 405-415
-
(1986)
Glucose-6-Phosphate Dehydrogenase
, pp. 405-415
-
-
Beutler, E.1
-
21
-
-
0029842792
-
Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency
-
S Filosa N Giacometti C Wangwei, et al. 1996 Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency Am J Hum Genet 59 887 895 8808605 1:CAS:528:DyaK28Xmt1KqsrY%3D (Pubitemid 26328086)
-
(1996)
American Journal of Human Genetics
, vol.59
, Issue.4
, pp. 887-895
-
-
Filosa, S.1
Giacometti, N.2
Wangwei, C.3
De Mattia, D.4
Pagnini, D.5
Alfinito, F.6
Schettini, F.7
Luzzatto, L.8
Martini, G.9
-
23
-
-
0347181274
-
Glucose-6-phosphate dehydrogenase deficiency in Thailand: Its significance in the newborn
-
11400792
-
VS Tanphaichitr 1999 Glucose-6-phosphate dehydrogenase deficiency in Thailand: its significance in the newborn Southeast Asian J Trop Med Public Health 30 Suppl 2 75 78 11400792
-
(1999)
Southeast Asian J Trop Med Public Health
, vol.30
, Issue.SUPPL. 2
, pp. 75-78
-
-
Tanphaichitr, V.S.1
-
25
-
-
31744448147
-
Dengue hemorrhagic fever in patients with thalassemia
-
B Pongtanakul N Narkbunnam G Veerakul, et al. 2005 Dengue hemorrhagic fever in patients with thalassemia J Med Assoc Thai 88 Suppl 8 580 584
-
(2005)
J Med Assoc Thai
, vol.88
, Issue.SUPPL. 8
, pp. 580-584
-
-
Pongtanakul, B.1
Narkbunnam, N.2
Veerakul, G.3
-
26
-
-
0000494375
-
Incidence of gallbladder disease in chronic hemolytic anemia (spherocytosis)
-
14926818 1:STN:280:DyaG38%2Fls12hug%3D%3D
-
GC Bates CH Brown 1952 Incidence of gallbladder disease in chronic hemolytic anemia (spherocytosis) Gastroenterology 21 104 109 14926818 1:STN:280:DyaG38%2Fls12hug%3D%3D
-
(1952)
Gastroenterology
, vol.21
, pp. 104-109
-
-
Bates, G.C.1
Brown, C.H.2
-
27
-
-
0019302505
-
Cholelithiasis in sickle cell anemia. Surgical or medical management
-
DOI 10.1001/archinte.140.5.648
-
GC Stephens RB Scott 1980 Cholelithiasis in sickle cell anemia Arch Intern Med 140 648 651 7396590 10.1001/archinte.140.5.648 1:STN:280: DyaL3c3ktFSruw%3D%3D (Pubitemid 10038376)
-
(1980)
Archives of Internal Medicine
, vol.140
, Issue.5
, pp. 648-651
-
-
Stephens, C.G.1
Scott, R.B.2
|