-
1
-
-
0000463189
-
Alkaptonuria
-
8th ed C.R. Scriver A.L. Beaudet W.S. Sly D. Valle B. Vogelstein McGraw-Hill New York
-
B.N. LaDu Alkaptonuria 8th ed C.R. Scriver A.L. Beaudet W.S. Sly D. Valle B. Vogelstein The Metabolic and Molecular Bases of Inherited Disease vol. 2 2001 McGraw-Hill New York 2109 2123
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.2
, pp. 2109-2123
-
-
Ladu, B.N.1
-
3
-
-
0027366933
-
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2
-
M.R. Pollak, Y.-H.W. Chou, and J.J. Cerda Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2 Nat. Genet. 5 1993 201 204
-
(1993)
Nat. Genet.
, vol.5
, pp. 201-204
-
-
Pollak, M.R.1
Chou, Y.-H.W.2
Cerda, J.J.3
-
4
-
-
0028089249
-
The human gene for alkaptonuria (AKU) maps to chromosome 3q
-
S. Janocha, W. Wolz, and S. Srsen The human gene for alkaptonuria (AKU) maps to chromosome 3q Genomics 19 1994 5 8
-
(1994)
Genomics
, vol.19
, pp. 5-8
-
-
Janocha, S.1
Wolz, W.2
Srsen, S.3
-
9
-
-
0026675589
-
Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase
-
S. Lindstedt, E. Holme, and E.A. Lock Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase Lancet 340 1992 813 817
-
(1992)
Lancet
, vol.340
, pp. 813-817
-
-
Lindstedt, S.1
Holme, E.2
Lock, E.A.3
-
10
-
-
0031871486
-
Tyrosinemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3- cyclohexanedione)
-
E. Holme, and S. Lindstedt Tyrosinemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione) J. Inherit. Metab. Dis. 21 1998 507 517
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, pp. 507-517
-
-
Holme, E.1
Lindstedt, S.2
-
11
-
-
0000840577
-
Ledenwirbel saoule und kreuzachmerchen
-
P. Schober Ledenwirbel saoule und kreuzachmerchen Munch. Med. Wochenschr. 84 1937 366
-
(1937)
Munch. Med. Wochenschr.
, vol.84
, pp. 366
-
-
Schober, P.1
-
13
-
-
0019489232
-
Choosing measures of health status for individual in general populations
-
J.E. Ware Choosing measures of health status for individual in general populations Am. J. Public Health 71 1981 620 625
-
(1981)
Am. J. Public Health
, vol.71
, pp. 620-625
-
-
Ware, J.E.1
-
14
-
-
0026877917
-
The MOS 36-Item Short Form Health Survey. SF-36. SF-36. Conceptual framework and item selection
-
J.E. Ware, and C.D. Sherbourne The MOS 36-Item Short Form Health Survey. SF-36. SF-36. Conceptual framework and item selection Med. Care 30 1992 473 483
-
(1992)
Med. Care
, vol.30
, pp. 473-483
-
-
Ware, J.E.1
Sherbourne, C.D.2
-
15
-
-
0015172127
-
The preparation and identification of various adducts of oxidized homogentisic acid and the development of a new sensitive colorimetric assay for homogentisic acid
-
T.J. Lustberg, J.D. Schulman, and J.E. Seegmiller The preparation and identification of various adducts of oxidized homogentisic acid and the development of a new sensitive colorimetric assay for homogentisic acid Clin. Chim. Acta 35 1971 325 333
-
(1971)
Clin. Chim. Acta
, vol.35
, pp. 325-333
-
-
Lustberg, T.J.1
Schulman, J.D.2
Seegmiller, J.E.3
-
16
-
-
0027478064
-
Improved renal function in children with cystinosis treated with cysteamine
-
T.C. Markello, I. Bernardini, and W.A. Gahl Improved renal function in children with cystinosis treated with cysteamine N. Engl. J. Med. 328 1993 1157 1162
-
(1993)
N. Engl. J. Med.
, vol.328
, pp. 1157-1162
-
-
Markello, T.C.1
Bernardini, I.2
Gahl, W.A.3
-
18
-
-
85031471543
-
Maintaining a nutrient database in a changing marketplace: Keeping pace with changing food products-a research perspective
-
S.F. Schakel Maintaining a nutrient database in a changing marketplace: Keeping pace with changing food products-a research perspective J. Food Compos. Anal. 14 2001 315 322
-
(2001)
J. Food Compos. Anal.
, vol.14
, pp. 315-322
-
-
Schakel, S.F.1
-
19
-
-
19444373176
-
Physical and functional performance in alkaptonuria
-
M.B. Perry, C. Phornphutkul, G.P. Furst, M.D. Murphey, W.A. Gahl, and L.H. Gerber Physical and functional performance in alkaptonuria Arch. Phys. Med. Rehabil. 84 9 2003 E6
-
(2003)
Arch. Phys. Med. Rehabil.
, vol.84
, Issue.9
, pp. 6
-
-
Perry, M.B.1
Phornphutkul, C.2
Furst, G.P.3
Murphey, M.D.4
Gahl, W.A.5
Gerber, L.H.6
-
20
-
-
19444369633
-
Impairments and functional limitations in alkaptonuria
-
M.B. Perry, W.J. Introne, G.P. Furst, W.A. Gahl, and L.H. Gerber Impairments and functional limitations in alkaptonuria Arch. Phys. Med. Rehabil. 82 9 2001 1298
-
(2001)
Arch. Phys. Med. Rehabil.
, vol.82
, Issue.9
, pp. 1298
-
-
Perry, M.B.1
Introne, W.J.2
Furst, G.P.3
Gahl, W.A.4
Gerber, L.H.5
-
21
-
-
0034836917
-
Pharmacokinetics and pharmacodynamics of NTBC (2-(2-nitro-4- fluoromethylbenzoyl)-1,3-cyclohexanedione) and mesotrione, inhibitors of 4-hydroxyphenylpyruvate dioxygenase (HPPD) following a single dose to healthy male volunteers
-
M.G. Hall, M.F. Wilks, W.M. Provan, S. Eksborg, and B. Lumholtz Pharmacokinetics and pharmacodynamics of NTBC (2-(2-nitro-4-fluoromethylbenzoyl) -1,3-cyclohexanedione) and mesotrione, inhibitors of 4-hydroxyphenylpyruvate dioxygenase (HPPD) following a single dose to healthy male volunteers Br. J. Clin. Pharmacol. 52 2001 169 177
-
(2001)
Br. J. Clin. Pharmacol.
, vol.52
, pp. 169-177
-
-
Hall, M.G.1
Wilks, M.F.2
Provan, W.M.3
Eksborg, S.4
Lumholtz, B.5
-
23
-
-
0034801237
-
Tyrosinemia type II: Nine cases of ocular signs and symptoms
-
M.S. Macsai, T.L. Schwartz, D. Hinkle, M.B. Hummel, M.G. Mulhern, and D. Rootman Tyrosinemia type II: Nine cases of ocular signs and symptoms Am. J. Ophthalmol. 132 2001 522 527
-
(2001)
Am. J. Ophthalmol.
, vol.132
, pp. 522-527
-
-
MacSai, M.S.1
Schwartz, T.L.2
Hinkle, D.3
Hummel, M.B.4
Mulhern, M.G.5
Rootman, D.6
-
24
-
-
18844467936
-
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III
-
U. Ruetschi, R. Cerone, and C. Perez-Cerda Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III Hum. Genet. 106 2000 654 662
-
(2000)
Hum. Genet.
, vol.106
, pp. 654-662
-
-
Ruetschi, U.1
Cerone, R.2
Perez-Cerda, C.3
-
25
-
-
0037097447
-
Side effects of statins: Hepatitis versus "transaminitis"- myositis versus "cPKitis"
-
C.A. Dujovne Side effects of statins: Hepatitis versus "transaminitis"-myositis versus "CPKitis" Am. J. Cardiol. 89 2002 1411 1413
-
(2002)
Am. J. Cardiol.
, vol.89
, pp. 1411-1413
-
-
Dujovne, C.A.1
-
26
-
-
0037097329
-
Reply to Dr. Dujovne's editorial
-
K.G. Tolman Reply to Dr. Dujovne's editorial Am. J. Cardiol. 89 2002 1452
-
(2002)
Am. J. Cardiol.
, vol.89
, pp. 1452
-
-
Tolman, K.G.1
|