-
1
-
-
0031945356
-
Hereditary fructose intolerance
-
10.1136/jmg.35.5.353 1:CAS:528:DyaK1cXjsVSgs7c%3D 9610797
-
M Ali P Rellos TM Cox 1998 Hereditary fructose intolerance J Med Genet 35 353 365 10.1136/jmg.35.5.353 1:CAS:528:DyaK1cXjsVSgs7c%3D 9610797
-
(1998)
J Med Genet
, vol.35
, pp. 353-365
-
-
Ali, M.1
Rellos, P.2
Cox, T.M.3
-
2
-
-
0018068312
-
Hereditary fructose intolerance in early childhood: A major diagnostic challenge. Survey of 20 symptomatic cases
-
1:STN:280:DyaE1M7gvFSlug%3D%3D 738900
-
K Baerlocher R Gitzelmann B Steinmann N Gitzelmann-Cumarasamy 1978 Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases Helv Paediatr Acta 33 465 487 1:STN:280:DyaE1M7gvFSlug%3D%3D 738900
-
(1978)
Helv Paediatr Acta
, vol.33
, pp. 465-487
-
-
Baerlocher, K.1
Gitzelmann, R.2
Steinmann, B.3
Gitzelmann-Cumarasamy, N.4
-
4
-
-
0027958074
-
Aldolase B and fructose intolerance
-
1:CAS:528:DyaK2cXhs1SisLg%3D 8299892
-
TM Cox 1994 Aldolase B and fructose intolerance FASEB J 8 62 71 1:CAS:528:DyaK2cXhs1SisLg%3D 8299892
-
(1994)
FASEB J
, vol.8
, pp. 62-71
-
-
Cox, T.M.1
-
5
-
-
27644580679
-
A case of galactosaemia with the pathological and neuropathological findings
-
10.1136/adc.37.194.415 1:CAS:528:DyaF38Xkslajsr4%3D 13882316
-
L Crome 1962 A case of galactosaemia with the pathological and neuropathological findings Arch Dis Child 37 415 421 10.1136/adc.37.194.415 1:CAS:528:DyaF38Xkslajsr4%3D 13882316
-
(1962)
Arch Dis Child
, vol.37
, pp. 415-421
-
-
Crome, L.1
-
6
-
-
0023935910
-
Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation
-
10.1016/S0092-8674(88)90349-2 1:CAS:528:DyaL1cXks1yjtL8%3D 3383242
-
NC Cross DR Tolan TM Cox 1988 Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation Cell 53 881 885 10.1016/S0092-8674(88)90349-2 1:CAS:528:DyaL1cXks1yjtL8%3D 3383242
-
(1988)
Cell
, vol.53
, pp. 881-885
-
-
Cross, N.C.1
Tolan, D.R.2
Cox, T.M.3
-
7
-
-
0025060128
-
Molecular analysis of aldolase B genes in hereditary fructose intolerance
-
DOI 10.1016/0140-6736(90)90603-3
-
NC Cross R de Franchis G Sebastio, et al. 1990 Molecular analysis of aldolase B genes in hereditary fructose intolerance Lancet 335 306 309 10.1016/0140-6736(90)90603-3 1:CAS:528:DyaK3cXhsFaqtr8%3D 1967768 (Pubitemid 20051258)
-
(1990)
Lancet
, vol.335
, Issue.8685
, pp. 306-309
-
-
Cross, N.C.P.1
De Franchis, R.2
Sebastio, G.3
Dazzo, C.4
Tolan, D.R.5
Gregori, C.6
Odievre, M.7
Vidailhet, M.8
Romano, V.9
Mascali, G.10
Romano, C.11
Musumeci, S.12
Steinmann, B.13
Gitzelmann, R.14
Cox, T.M.15
-
9
-
-
46949110730
-
Hereditary fructose intolerance: Frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France-identification of eight new mutations
-
10.1016/j.ymgme.2008.05.003 1:CAS:528:DC%2BD1cXosVOnur8%3D 18541450
-
A Davit-Spraul C Costa M Zater, et al. 2008 Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France-identification of eight new mutations Mol Genet Metab 94 443 447 10.1016/j.ymgme.2008.05.003 1:CAS:528:DC%2BD1cXosVOnur8%3D 18541450
-
(2008)
Mol Genet Metab
, vol.94
, pp. 443-447
-
-
Davit-Spraul, A.1
Costa, C.2
Zater, M.3
-
10
-
-
0033585130
-
Hydrogen exchange demonstrates three domains in aldolase unfold sequentially
-
10.1006/jmbi.1999.3251 1:CAS:528:DyaK1MXntFCrtb4%3D 10556043
-
Y Deng DL Smith 1999 Hydrogen exchange demonstrates three domains in aldolase unfold sequentially J Mol Biol 294 247 258 10.1006/jmbi.1999.3251 1:CAS:528:DyaK1MXntFCrtb4%3D 10556043
-
(1999)
J Mol Biol
, vol.294
, pp. 247-258
-
-
Deng, Y.1
Smith, D.L.2
-
11
-
-
0037032455
-
Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance
-
DOI 10.1016/S0014-5793(02)03451-8, PII S0014579302034518
-
G Esposito L Vitagliano R Santamaria A Viola A Zagari F Salvatore 2002 Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance FEBS Lett 531 152 156 10.1016/S0014-5793(02)03451-8 1:CAS:528:DC%2BD38Xotl2ntb0%3D 12417303 (Pubitemid 35341186)
-
(2002)
FEBS Letters
, vol.531
, Issue.2
, pp. 152-156
-
-
Esposito, G.1
Vitagliano, L.2
Santamaria, R.3
Viola, A.4
Zagari, A.5
Salvatore, F.6
-
12
-
-
85013934394
-
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene
-
10.1002/humu.9290 15532022
-
G Esposito R Santamaria L Vitagliano, et al. 2004 Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene Hum Mutat 24 534 10.1002/humu.9290 15532022
-
(2004)
Hum Mutat
, vol.24
, pp. 534
-
-
Esposito, G.1
Santamaria, R.2
Vitagliano, L.3
-
13
-
-
0017139433
-
Disorders of fructose metabolism
-
10.1016/S0300-595X(76)80042-4 1:CAS:528:DyaE2sXmvFersA%3D%3D 189957
-
ER Froesch 1976 Disorders of fructose metabolism Clin Endocrinol Metab 5 599 611 10.1016/S0300-595X(76)80042-4 1:CAS:528:DyaE2sXmvFersA%3D%3D 189957
-
(1976)
Clin Endocrinol Metab
, vol.5
, pp. 599-611
-
-
Froesch, E.R.1
-
14
-
-
33750530816
-
Galactosemia: The good, the bad, and the unknown
-
Fridovich-Keil (2006) Galactosemia: the good, the bad, and the unknown. J Cell Physiol 209:701-705
-
(2006)
J Cell Physiol
, vol.209
, pp. 701-705
-
-
Fridovich-Keil1
-
15
-
-
0029119644
-
Galactose-1-phosphate in the pathophysiology of galactosemia
-
10.1007/BF02143803 1:CAS:528:DyaK2MXnsFKls7g%3D 7671964
-
R Gitzelmann 1995 Galactose-1-phosphate in the pathophysiology of galactosemia Eur J Pediatr 154 S45 S49 10.1007/BF02143803 1:CAS:528: DyaK2MXnsFKls7g%3D 7671964
-
(1995)
Eur J Pediatr
, vol.154
-
-
Gitzelmann, R.1
-
16
-
-
33645115974
-
Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population
-
10.1016/j.ymgme.2005.11.010 1:CAS:528:DC%2BD28XivVGrtbs%3D 16406649
-
J Gruchota E Pronicka L Korniszewski, et al. 2006 Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population Mol Genet Metab 87 376 378 10.1016/j.ymgme.2005.11.010 1:CAS:528: DC%2BD28XivVGrtbs%3D 16406649
-
(2006)
Mol Genet Metab
, vol.87
, pp. 376-378
-
-
Gruchota, J.1
Pronicka, E.2
Korniszewski, L.3
-
17
-
-
0002636585
-
Galactosemia
-
C.R. Scriver L. Beaudet D. Valle W.S. Sly B. Childs K.W. Kinzler B. Vogelstein (eds). McGraw-Hill Columbus
-
Holton JB, Walter JH, Tyfield LA (2001) Galactosemia. In: Scriver CR, Beaudet L, Valle D, Sly WS, Childs B, Kinzler KW, Vogelstein B (eds) The metabolic and molecular bases of inherited disease (8th edn). McGraw-Hill, Columbus, pp 1553-1587
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease (8th Edn)
, pp. 1553-1587
-
-
Holton, J.B.1
Walter, J.H.2
Tyfield, L.A.3
-
18
-
-
0027485399
-
Inborn errors of fructose metabolism
-
1:STN:280:DyaK2c%2Fis1ygsw%3D%3D 8213611
-
FA Hommes 1993 Inborn errors of fructose metabolism Am J Clin Nutr 58 788S 795S 1:STN:280:DyaK2c%2Fis1ygsw%3D%3D 8213611
-
(1993)
Am J Clin Nutr
, vol.58
-
-
Hommes, F.A.1
-
19
-
-
84965259327
-
Diagnosis and treatment of galactosaemia
-
10.1136/bmj.1.4856.242 1:STN:280:DyaG2c%2Fjs1KnsQ%3D%3D 13115681
-
FP Hudson JT Ireland BG Ockenden RH White-Jones 1954 Diagnosis and treatment of galactosaemia Br Med J 1 242 245 10.1136/bmj.1.4856.242 1:STN:280:DyaG2c%2Fjs1KnsQ%3D%3D 13115681
-
(1954)
Br Med J
, vol.1
, pp. 242-245
-
-
Hudson, F.P.1
Ireland, J.T.2
Ockenden, B.G.3
White-Jones, R.H.4
-
20
-
-
0029957579
-
Inhibition of phosphomannose isomerase by fructose 1-phosphate: An explanation for defective N-glycosylation in hereditary fructose intolerance
-
10.1203/00006450-199611000-00017 1:CAS:528:DyaK28XmvFWnsLY%3D 8910943
-
J Jaeken M Pirard M Adamowicz E Pronicka E van Schaftingen 1996 Inhibition of phosphomannose isomerase by fructose 1-phosphate: An explanation for defective N-glycosylation in hereditary fructose intolerance Pediatr Res 40 764 766 10.1203/00006450-199611000-00017 1:CAS:528:DyaK28XmvFWnsLY%3D 8910943
-
(1996)
Pediatr Res
, vol.40
, pp. 764-766
-
-
Jaeken, J.1
Pirard, M.2
Adamowicz, M.3
Pronicka, E.4
Van Schaftingen, E.5
-
22
-
-
0029954183
-
Neonatal screening for hereditary fructose intolerance: Frequency of the most common mutant aldolase B allele (A149P) in the British population
-
10.1136/jmg.33.10.837 1:CAS:528:DyaK2sXjs1anug%3D%3D 8933337
-
CL James P Rellos M Ali AF Heeley TM Cox 1996 Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population J Med Genet 33 837 841 10.1136/jmg.33.10.837 1:CAS:528:DyaK2sXjs1anug%3D%3D 8933337
-
(1996)
J Med Genet
, vol.33
, pp. 837-841
-
-
James, C.L.1
Rellos, P.2
Ali, M.3
Heeley, A.F.4
Cox, T.M.5
-
23
-
-
0036881903
-
Simple method for detection of mutations causing hereditary fructose intolerance
-
DOI 10.1023/A:1022043307569
-
C Kullberg-Lindh C Hannoun M Lindh 2002 Simple method for detection of mutations causing hereditary fructose intolerance J Inherit Metab Dis 25 571 575 10.1023/A:1022043307569 1:CAS:528:DC%2BD3sXlsleqsQ%3D%3D 12638940 (Pubitemid 36266992)
-
(2002)
Journal of Inherited Metabolic Disease
, vol.25
, Issue.7
, pp. 571-575
-
-
Kullberg-Lindh, C.1
Hannoun, C.2
Lindh, M.3
-
24
-
-
0018075620
-
Hereditary fructose intolerance: A difficult diagnosis in the adult
-
10.1016/0002-9343(78)90767-2 1:STN:280:DyaE1M%2FlvFKgsQ%3D%3D 213970
-
N Lameire M Mussche G Baele J Kint S Ringoir 1978 Hereditary fructose intolerance: a difficult diagnosis in the adult Am J Med 65 416 423 10.1016/0002-9343(78)90767-2 1:STN:280:DyaE1M%2FlvFKgsQ%3D%3D 213970
-
(1978)
Am J Med
, vol.65
, pp. 416-423
-
-
Lameire, N.1
Mussche, M.2
Baele, G.3
Kint, J.4
Ringoir, S.5
-
25
-
-
0014443207
-
Distribution of fructose diphosphate aldolase variants in biological systems
-
10.1021/bi00829a016 1:CAS:528:DyaF1MXksVCjtA%3D%3D 5777313
-
HG Lebherz WJ Rutter 1969 Distribution of fructose diphosphate aldolase variants in biological systems Biochemistry 8 109 121 10.1021/bi00829a016 1:CAS:528:DyaF1MXksVCjtA%3D%3D 5777313
-
(1969)
Biochemistry
, vol.8
, pp. 109-121
-
-
Lebherz, H.G.1
Rutter, W.J.2
-
26
-
-
0030459464
-
An EST and STS-based YAC contig map of human chromosome 9q22.3
-
DOI 10.1006/geno.1996.0616
-
NJ Lench EA Telford SE Andersen TP Moynihan PA Robinson AF Markham 1996 An EST and STS-based YAC conting map of human chromosome 9q22.3 Genomics 38 199 205 10.1006/geno.1996.0616 1:CAS:528:DyaK28XnsFahtb0%3D 8954802 (Pubitemid 26424599)
-
(1996)
Genomics
, vol.38
, Issue.2
, pp. 199-205
-
-
Lench, N.J.1
Telford, E.A.2
Andersen, S.E.3
Moynihan, T.P.4
Robinson, P.A.5
Markham, A.F.6
-
27
-
-
73649152364
-
Fructosaemia: An inborn error of fructose metabolism
-
10.1136/adc.38.199.220 1:CAS:528:DyaF3sXks1Crurg%3D
-
B Levin VG Oberholzer GJ Snodgrass L Stimmler MJ Wilmers 1963 Fructosaemia: an inborn error of fructose metabolism Arch Dis Child 38 220 230 10.1136/adc.38.199.220 1:CAS:528:DyaF3sXks1Crurg%3D
-
(1963)
Arch Dis Child
, vol.38
, pp. 220-230
-
-
Levin, B.1
Oberholzer, V.G.2
Snodgrass, G.J.3
Stimmler, L.4
Wilmers, M.J.5
-
28
-
-
0343667082
-
Acute liver and kidney failure following sorbitol infusion in a 28-year-old patient with undiagnosed fructose intolerance
-
10.1055/s-2007-1002535 1:STN:280:DyaL1c%2FitFKrsg%3D%3D 3116878
-
S Locher 1987 Acute liver and kidney failure following sorbitol infusion in a 28-year-old patient with undiagnosed fructose intolerance Anasth Intensivther Notfallmed 22 194 197 10.1055/s-2007-1002535 1:STN:280: DyaL1c%2FitFKrsg%3D%3D 3116878
-
(1987)
Anasth Intensivther Notfallmed
, vol.22
, pp. 194-197
-
-
Locher, S.1
-
29
-
-
0036910881
-
The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance
-
DOI 10.1016/S0003-9861(02)00546-5, PII S0003986102005465
-
AD Malay SL Procious DR Tolan 2002 The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance Arch Biochem Biophys 408 295 304 10.1016/S0003-9861(02)00546-5 1:CAS:528:DC%2BD38XpsF2ks74%3D 12464284 (Pubitemid 36027052)
-
(2002)
Archives of Biochemistry and Biophysics
, vol.408
, Issue.2
, pp. 295-304
-
-
Malay, A.D.1
Procious, S.L.2
Tolan, D.R.3
-
30
-
-
14144250670
-
Structure of the thermolabile mutant aldolase B, A149P: Molecular basis of hereditary fructose intolerance
-
DOI 10.1016/j.jmb.2005.01.008
-
AD Malay KN Allen DR Tolan 2005 Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance J Mol Biol 347 135 144 10.1016/j.jmb.2005.01.008 1:CAS:528:DC%2BD2MXhslChtLc%3D 15733923 (Pubitemid 40283634)
-
(2005)
Journal of Molecular Biology
, vol.347
, Issue.1
, pp. 135-144
-
-
Malay, A.D.1
Allen, K.N.2
Tolan, D.R.3
-
31
-
-
0027364672
-
Intermediary metabolism of fructose
-
1:CAS:528:DyaK2cXltlGk 8213607
-
PA Mayes 1993 Intermediary metabolism of fructose Am J Clin Nutr 58 754S 765S 1:CAS:528:DyaK2cXltlGk 8213607
-
(1993)
Am J Clin Nutr
, vol.58
-
-
Mayes, P.A.1
-
32
-
-
0020613873
-
Chronic fructose intoxication after infancy in children with hereditary fructose intolerance. A cause of growth retardation
-
1:STN:280:DyaL3s3pslGnsw%3D%3D 6888454
-
DM Mock JA Perman M Thaler RC Morris 1983 Chronic fructose intoxication after infancy in children with hereditary fructose intolerance. A cause of growth retardation N Engl J Med 309 764 770 1:STN:280:DyaL3s3pslGnsw%3D%3D 6888454
-
(1983)
N Engl J Med
, vol.309
, pp. 764-770
-
-
Mock, D.M.1
Perman, J.A.2
Thaler, M.3
Morris, R.C.4
-
33
-
-
0023627259
-
Study of hereditary fructose intolerance by use of 31P magnetic resonance spectroscopy
-
10.1016/S0140-6736(87)91419-X 1:CAS:528:DyaL1cXivV2i 2889861
-
RD Oberhaensli B Rajagopalan DJ Taylor, et al. 1987 Study of hereditary fructose intolerance by use of 31P magnetic resonance spectroscopy Lancet 2 931 934 10.1016/S0140-6736(87)91419-X 1:CAS:528:DyaL1cXivV2i 2889861
-
(1987)
Lancet
, vol.2
, pp. 931-934
-
-
Oberhaensli, R.D.1
Rajagopalan, B.2
Taylor, D.J.3
-
34
-
-
0018224579
-
Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients
-
655145
-
M Odièvre C Gentil M Gautier D Alagille 1978 Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients Am J Dis Child 132 605 608 655145
-
(1978)
Am J Dis Child
, vol.132
, pp. 605-608
-
-
Odièvre, M.1
Gentil, C.2
Gautier, M.3
Alagille, D.4
-
35
-
-
0013955195
-
Multiple forms of fructose diphosphate aldolase in mammalian tissues
-
10.1073/pnas.56.4.1275 1:CAS:528:DyaF2sXlt1Glsg%3D%3D 5230152
-
E Penhoet T Rajkumar WJ Rutter 1966 Multiple forms of fructose diphosphate aldolase in mammalian tissues Proc Natl Acad Sci USA 56 1275 1282 10.1073/pnas.56.4.1275 1:CAS:528:DyaF2sXlt1Glsg%3D%3D 5230152
-
(1966)
Proc Natl Acad Sci USA
, vol.56
, pp. 1275-1282
-
-
Penhoet, E.1
Rajkumar, T.2
Rutter, W.J.3
-
36
-
-
0014603237
-
Molecular and catalytic properties of aldolase C
-
10.1021/bi00839a026 1:CAS:528:DyaE3cXhvVKgtQ%3D%3D 4982047
-
EE Penhoet M Kochman WJ Rutter 1969 Molecular and catalytic properties of aldolase C Biochemistry 8 4396 4402 10.1021/bi00839a026 1:CAS:528: DyaE3cXhvVKgtQ%3D%3D 4982047
-
(1969)
Biochemistry
, vol.8
, pp. 4396-4402
-
-
Penhoet, E.E.1
Kochman, M.2
Rutter, W.J.3
-
37
-
-
0038269017
-
Spatial clustering of isozyme-specific residues reveals unlikely determinants of isozyme specificity in fructose-1,6-bisphosphate aldolase
-
DOI 10.1074/jbc.M209185200
-
JA Pezza KH Choi TZ Berardini PT Beernink KN Allen DR Tolan 2003 Spatial clustering of isozyme-specific residues reveals unlikely determinants of isozyme specificity in fructose-1, 6-bisphosphate aldolase J Biol Chem 278 17307 17313 10.1074/jbc.M209185200 1:CAS:528:DC%2BD3sXjsVKmsLw%3D 12611890 (Pubitemid 36799614)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.19
, pp. 17307-17313
-
-
Pezza, J.A.1
Choi, K.H.2
Berardini, T.Z.3
Beernink, P.T.4
Allen, K.N.5
Tolan, D.R.6
-
38
-
-
0014296977
-
Subcellular pathology of hereditary fructose intolerance
-
10.1016/0002-9343(68)90091-0 1:STN:280:DyaF1c3otl2msg%3D%3D 5656202
-
MJ Phillips JA Little TW Ptak 1968 Subcellular pathology of hereditary fructose intolerance Am J Med 44 910 921 10.1016/0002-9343(68)90091-0 1:STN:280:DyaF1c3otl2msg%3D%3D 5656202
-
(1968)
Am J Med
, vol.44
, pp. 910-921
-
-
Phillips, M.J.1
Little, J.A.2
Ptak, T.W.3
-
39
-
-
34250796209
-
Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia
-
DOI 10.1203/PDR.0b013e318068641a
-
E Pronicka M Adamowicz A Kowalik, et al. 2007 Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia Pediatr Res 62 101 105 10.1203/PDR.0b013e318068641a 1:CAS:528:DC%2BD2sXmsVOkt70%3D 17515832 (Pubitemid 46985859)
-
(2007)
Pediatric Research
, vol.62
, Issue.1
, pp. 101-105
-
-
Pronicka, E.1
Adamowicz, M.2
Kowalik, A.3
Ploski, R.4
Radomyska, B.5
Rogaszewska, M.6
Rokicki, D.7
Sykut-Cegielska, J.8
-
40
-
-
84880972082
-
Secondary disorders of glycosylation in inborn errors of fructose metabolism
-
doi:10.1007/s10545-009-1219-4)
-
Quintana E, Sturiale L, Montero R et al (2009) Secondary disorders of glycosylation in inborn errors of fructose metabolism. J Inherit Metab Dis. doi: 10.1007/s10545-009-1219-4 )
-
(2009)
J Inherit Metab Dis
-
-
Quintana, E.1
Sturiale, L.2
Montero, R.3
-
41
-
-
0033562970
-
337→Val) in fructose intolerance
-
DOI 10.1042/0264-6021:3400321
-
P Rellos M Ali M Vidailhet J Sygusch TM Cox 1999 Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337 → Val) in fructose intolerance Biochem J 340 321 327 10.1042/0264-6021:3400321 1:CAS:528:DyaK1MXjs12ksL0%3D 10229688 (Pubitemid 29251121)
-
(1999)
Biochemical Journal
, vol.340
, Issue.1
, pp. 321-327
-
-
Rellos, P.1
Ali, M.2
Vidailhet, M.3
Sygusch, J.4
Cox, T.M.5
-
42
-
-
0033979904
-
Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis
-
DOI 10.1074/jbc.275.2.1145
-
P Rellos J Sygusch TM Cox 2000 Expression, purification and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis J Biol Chem 275 1145 1151 10.1074/jbc.275.2.1145 1:CAS:528:DC%2BD3cXntlegsQ%3D%3D 10625657 (Pubitemid 30051165)
-
(2000)
Journal of Biological Chemistry
, vol.275
, Issue.2
, pp. 1145-1151
-
-
Rellos, P.1
Sygusch, J.2
Cox, T.M.3
-
43
-
-
0032977720
-
Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications
-
DOI 10.1038/sj.ejhg.5200299
-
R Santamaria L Vitagliano S Tamasi, et al. 1999 Novel six-nucleotide deletion in the hepatic fructose-1, 6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications Eur J Hum Genet 7 409 414 10.1038/sj.ejhg.5200299 1:CAS:528:DyaK1MXktF2jt7Y%3D 10352930 (Pubitemid 29261325)
-
(1999)
European Journal of Human Genetics
, vol.7
, Issue.4
, pp. 409-414
-
-
Santamaria, R.1
Vitagliano, L.2
Tamasi, S.3
Izzo, P.4
Zancan, L.5
Zagari, A.6
Salvatore, F.7
-
44
-
-
0034664941
-
Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase
-
10.1042/0264-6021:3500823 1:CAS:528:DC%2BD3cXntlCmu7o%3D 10970798
-
R Santamaria G Esposito L Vitagliano, et al. 2000 Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase Biochem J 350 823 828 10.1042/0264-6021:3500823 1:CAS:528:DC%2BD3cXntlCmu7o%3D 10970798
-
(2000)
Biochem J
, vol.350
, pp. 823-828
-
-
Santamaria, R.1
Esposito, G.2
Vitagliano, L.3
-
45
-
-
34548094022
-
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe
-
10.1002/humu.9343 15880727
-
R Santer J Rischewski M von Weihe, et al. 2005 The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe Hum Mutat 25 594 10.1002/humu.9343 15880727
-
(2005)
Hum Mutat
, vol.25
, pp. 594
-
-
Santer, R.1
Rischewski, J.2
Von Weihe, M.3
-
46
-
-
77953232201
-
Disorders of fructose metabolism
-
L. Goldman D.A. Ausiello (eds). Elsevier Health Sciences Amsterdam Chapter 220
-
Steinmann B (2007) Disorders of fructose metabolism. In: Goldman L, Ausiello DA (eds) Cecil medicine. Elsevier Health Sciences, Amsterdam, Chapter 220
-
(2007)
Cecil Medicine
-
-
Steinmann, B.1
-
47
-
-
0019511485
-
The diagnosis of hereditary fructose intolerance
-
1:CAS:528:DyaL3MXmtVSisr8%3D 6268573
-
B Steinmann R Gitzelmann 1981 The diagnosis of hereditary fructose intolerance Helv Paediatr Acta 36 297 316 1:CAS:528:DyaL3MXmtVSisr8%3D 6268573
-
(1981)
Helv Paediatr Acta
, vol.36
, pp. 297-316
-
-
Steinmann, B.1
Gitzelmann, R.2
-
48
-
-
53549110284
-
Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS
-
10.1002/pmic.200700496 1:CAS:528:DC%2BD1cXht1Sgu7zI 18712764
-
L Sturiale R Barone A Palmigiano, et al. 2008 Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS Proteomics 8 3822 3832 10.1002/pmic.200700496 1:CAS:528:DC%2BD1cXht1Sgu7zI 18712764
-
(2008)
Proteomics
, vol.8
, pp. 3822-3832
-
-
Sturiale, L.1
Barone, R.2
Palmigiano, A.3
-
49
-
-
0023446039
-
Molecular architecture of rabbit skeletal muscle aldolase at 2.7-Å resolution
-
10.1073/pnas.84.22.7846 1:CAS:528:DyaL1cXntFaktA%3D%3D 3479768
-
J Sygusch D Beaudry M Allaire 1987 Molecular architecture of rabbit skeletal muscle aldolase at 2.7-Å resolution Proc Natl Acad Sci USA 84 7846 7850 10.1073/pnas.84.22.7846 1:CAS:528:DyaL1cXntFaktA%3D%3D 3479768
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 7846-7850
-
-
Sygusch, J.1
Beaudry, D.2
Allaire, M.3
-
50
-
-
0344253687
-
Thermodynamic analysis of the dissociation of the aldolase tetramer substituted at one or both of the subunit interfaces
-
DOI 10.1515/BC.2003.162
-
DR Tolan B Schuler PT Beernink R Jaenicke 2003 Thermodynamic analysis of the dissociation of the aldolase tetramer substituted at one or both of the subunit interfaces Biol Chem 384 1463 1471 10.1515/BC.2003.162 1:CAS:528:DC%2BD3sXpsFCls7k%3D 14669989 (Pubitemid 37508650)
-
(2003)
Biological Chemistry
, vol.384
, Issue.10-11
, pp. 1463-1471
-
-
Tolan, D.R.1
Schuler, B.2
Beernink, P.T.3
Jaenicke, R.4
-
51
-
-
0001288417
-
Effect of administration of the fructose on the glycogenolytic action of glucagon. An investigation of the pathogeny of hereditary fructose intolerance
-
G Van Den Berghe L Hue HG Hers 1973 Effect of administration of the fructose on the glycogenolytic action of glucagon. An investigation of the pathogeny of hereditary fructose intolerance Biochem J 134 637 645
-
(1973)
Biochem J
, vol.134
, pp. 637-645
-
-
Van Den Berghe, G.1
Hue, L.2
Hers, H.G.3
-
52
-
-
0024543929
-
A protein from rat liver confers to glucokinase the property of being antagonistically regulated by fructose 6-phosphate and fructose 1-phosphate
-
DOI 10.1111/j.1432-1033.1989.tb14538.x
-
E Van Schaftingen 1989 A protein from rat liver confers to glucokinase the property of being antagonistically regulated by fructose 6-phosphate and fructose 1-phosphate Eur J Biochem 179 179 184 10.1111/j.1432-1033.1989.tb14538. x 2917560 (Pubitemid 19097674)
-
(1989)
European Journal of Biochemistry
, vol.179
, Issue.1
, pp. 179-184
-
-
Van Schaftingen, E.1
-
53
-
-
0037041034
-
Identification of fructose 6-phosphate- and fructose 1-phosphate-binding residues in the regulatory protein of glucokinase
-
DOI 10.1074/jbc.M105984200
-
M Veiga-da-Cunha E Van Schaftingen 2002 Identification of fructose 6-phosphate and fructose 1-phosphate-binding residues in the regulatory protein of glucokinase J Biol Chem 277 8466 8473 10.1074/jbc.M105984200 1:CAS:528:DC%2BD38XitFymtb0%3D 11756407 (Pubitemid 34968308)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.10
, pp. 8466-8473
-
-
Veiga-da-Cunha, M.1
Van Schaftingen, E.2
-
54
-
-
0029807873
-
Molecular analysis of the fructose transporter gene (GLUT5) in isolated fructose malabsorption
-
10.1172/JCI119053 1:CAS:528:DyaK28XntVOhtrw%3D 8941659
-
D Wasserman JH Hoekstra V Tolia, et al. 1996 Molecular analysis of the fructose transporter gene (GLUT5) in isolated fructose malabsorption J Clin Invest 98 2398 2402 10.1172/JCI119053 1:CAS:528:DyaK28XntVOhtrw%3D 8941659
-
(1996)
J Clin Invest
, vol.98
, pp. 2398-2402
-
-
Wasserman, D.1
Hoekstra, J.H.2
Tolia, V.3
-
55
-
-
77953233596
-
Fructose intolerance, hereditary
-
F. Lang (eds). Springer-Verlag Berlin
-
Wong DA (2009) Fructose intolerance, hereditary. In: Lang F (ed) Encyclopedia of molecular mechanisms of disease. Springer-Verlag, Berlin, pp 673-675
-
(2009)
Encyclopedia of Molecular Mechanisms of Disease
, pp. 673-675
-
-
Wong, D.A.1
|