-
1
-
-
0000029655
-
Disorders of galactose metabolism
-
S Segal GT Berry Disorders of galactose metabolism D Scriver A Beaudet W Sly D Valle The metabolic basis of inherited disease 1995 McGraw-Hill New York 967 1000
-
(1995)
, pp. 967-1000
-
-
Segal, S1
Berry, GT2
-
2
-
-
0026514545
-
The enigma of galactosemia
-
S Segal The enigma of galactosemia Int Pediatr 7 1992 75 82
-
(1992)
Int Pediatr
, vol.7
, pp. 75-82
-
-
Segal, S1
-
3
-
-
0025648036
-
Long-term prognosis in galactosemia: results of a survey of 350 cases
-
DD Waggoner NR Buist GN Donnell Long-term prognosis in galactosemia: results of a survey of 350 cases J Inherit Metab Dis 13 1990 801 818
-
(1990)
J Inherit Metab Dis
, vol.13
, pp. 801-818
-
-
Waggoner, DD1
Buist, NR2
Donnell, GN3
-
5
-
-
0023886702
-
Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase
-
JKV Reichardt P Berg Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase Mol Biol Med 5 1988 107 122
-
(1988)
Mol Biol Med
, vol.5
, pp. 107-122
-
-
Reichardt, JKV1
Berg, P2
-
6
-
-
0025113833
-
Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase
-
JE Flach JKV Reichardt LJ Elsas Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase Mol Biol Med 7 1990 365 369
-
(1990)
Mol Biol Med
, vol.7
, pp. 365-369
-
-
Flach, JE1
Reichardt, JKV2
Elsas, LJ3
-
8
-
-
0028968325
-
Galactosemia: A Strategy to Identify New Biochemical Phenotypes and Molecular Genotypes
-
LJ Elsas S Langley E Steele J Evinger JL Fridovich-Keil A Brown R Singh P Fernhoff LN Hjelm PP Dembure Galactosemia: A Strategy to Identify New Biochemical Phenotypes and Molecular Genotypes Am J Hum Genet 56 1995 630 639
-
(1995)
Am J Hum Genet
, vol.56
, pp. 630-639
-
-
Elsas, LJ1
Langley, S2
Steele, E3
Evinger, J4
Fridovich-Keil, JL5
Brown, A6
Singh, R7
Fernhoff, P8
Hjelm, LN9
Dembure, PP10
-
9
-
-
0027263889
-
Galactosemia: a molecular approach to the enigma
-
LJ Elsas JL Fridovich-Keil ND Leslie Galactosemia: a molecular approach to the enigma Int Pediatr 8 1993 101 109
-
(1993)
Int Pediatr
, vol.8
, pp. 101-109
-
-
Elsas, LJ1
Fridovich-Keil, JL2
Leslie, ND3
-
10
-
-
0001511188
-
The oxidation of C14 galactose by patients with congenital galactosemia
-
14 galactose by patients with congenital galactosemia Am J Med 44 1968 340 347
-
(1968)
Am J Med
, vol.44
, pp. 340-347
-
-
Segal, S1
Cuatrecasas, P2
-
11
-
-
0015025404
-
Liver galactose-1-phosphate uridyl transferase: activity in normal and galactosemic subjects
-
S Segal S Rogers PG Holtzapple Liver galactose-1-phosphate uridyl transferase: activity in normal and galactosemic subjects J Clin Invest 50 1971 500 506
-
(1971)
J Clin Invest
, vol.50
, pp. 500-506
-
-
Segal, S1
Rogers, S2
Holtzapple, PG3
-
12
-
-
0000814750
-
Galactosemia: symptomatic and asymptomatic homozygotes in one Negro sibship
-
L Baker WJ Mellman TA Tedesco S Segal Galactosemia: symptomatic and asymptomatic homozygotes in one Negro sibship J PEDIATR 68 1966 551 558
-
(1966)
J PEDIATR
, vol.68
, pp. 551-558
-
-
Baker, L1
Mellman, WJ2
Tedesco, TA3
Segal, S4
-
13
-
-
84909451946
-
Determination of blood hemoglobin: cyanomethemoglobin method
-
EJ Van Kampen WG Zijlstra Determination of blood hemoglobin: cyanomethemoglobin method RJ Henry DC Cannon JW Winkelman Clinical chemistry: principles and techniques vol 11 1974 Harper & Row New York 1131 1135
-
(1974)
, pp. 1131-1135
-
-
Van Kampen, EJ1
Zijlstra, WG2
-
14
-
-
0004226197
-
Clinical chemistry
-
RJ Henry Clinical chemistry 1966 Harper & Row New York
-
(1966)
-
-
Henry, RJ1
-
15
-
-
0013837619
-
An improved assay of erythrocyte galactose-1-phosphate uridyl transferase: stabilization of the enzyme by a thiol protective reagent
-
WJ Mellman TA Tedesco An improved assay of erythrocyte galactose-1-phosphate uridyl transferase: stabilization of the enzyme by a thiol protective reagent J Lab Clin Med 66 1965 980 986
-
(1965)
J Lab Clin Med
, vol.66
, pp. 980-986
-
-
Mellman, WJ1
Tedesco, TA2
-
16
-
-
0014059192
-
An improved procedure for the assay of hemolysate galactose-1-phosphate uridyl transferase activity by the use of 14C-labeled galactose-1-phosphate
-
14C-labeled galactose-1-phosphate Clin Chim Acta 15 1967 489 492
-
(1967)
Clin Chim Acta
, vol.15
, pp. 489-492
-
-
Ng, WG1
Bergren, WR2
Donnell, GN3
-
17
-
-
0019983574
-
Semi-micro techniques for the genotyping of galactokinase and galactose-1-phosphate uridyl transferase
-
JES Lee WG Ng Semi-micro techniques for the genotyping of galactokinase and galactose-1-phosphate uridyl transferase Clin Chim Acta 124 1982 351 356
-
(1982)
Clin Chim Acta
, vol.124
, pp. 351-356
-
-
Lee, JES1
Ng, WG2
-
18
-
-
77049309786
-
Studies of the fibrinogen, dextran and phytohemagglutinin method of isolating leukocytes
-
WA Skoog WS Beck Studies of the fibrinogen, dextran and phytohemagglutinin method of isolating leukocytes Blood 11 1956 436 454
-
(1956)
Blood
, vol.11
, pp. 436-454
-
-
Skoog, WA1
Beck, WS2
-
19
-
-
4243946782
-
α-D-Galactose-1-phosphate: determination as galactose after hydrolysis of phosphate
-
R Gitzelmann α-D-Galactose-1-phosphate: determination as galactose after hydrolysis of phosphate HU Bergmeyer Methods of enzymatic analysis 1974 Academic Press New York 1291 1295
-
(1974)
, pp. 1291-1295
-
-
Gitzelmann, R1
-
21
-
-
0027286639
-
Practical methods to estimate whole body leucine oxidation in maple syrup urine disease
-
LJ Elsas NP Ellerine PD Klein Practical methods to estimate whole body leucine oxidation in maple syrup urine disease Pediatr Res 33 1993 445 457
-
(1993)
Pediatr Res
, vol.33
, pp. 445-457
-
-
Elsas, LJ1
Ellerine, NP2
Klein, PD3
-
22
-
-
0028899506
-
Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family
-
JL Fridovich-Keil SD Langley LA Mazur JC Lennon PP Dembure LJ Elsas Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family Am J Hum Genet 56 1995 640 646
-
(1995)
Am J Hum Genet
, vol.56
, pp. 640-646
-
-
Fridovich-Keil, JL1
Langley, SD2
Mazur, LA3
Lennon, JC4
Dembure, PP5
Elsas, LJ6
-
23
-
-
0026629066
-
Molecular characterization of two galactosemia mutations and one polymorphism: Implications for structure-function analysis of human galactose-1-phosphate uridyltransferase
-
JK Reichardt HL Levy SLC Woo Molecular characterization of two galactosemia mutations and one polymorphism: Implications for structure-function analysis of human galactose-1-phosphate uridyltransferase Biochemistry 31 1992 5430 5433
-
(1992)
Biochemistry
, vol.31
, pp. 5430-5433
-
-
Reichardt, JK1
Levy, HL2
Woo, SLC3
-
24
-
-
0028895956
-
A minor tyrosine phosphorylation site located within the CAIN domain plays a critical role in regulating tissue-specific transformation by erbB kinase
-
CM Chang HK Shu L Ravi RJ Pelley H Shu HJ Kung A minor tyrosine phosphorylation site located within the CAIN domain plays a critical role in regulating tissue-specific transformation by erbB kinase J Virol 69 1995 1172 1180
-
(1995)
J Virol
, vol.69
, pp. 1172-1180
-
-
Chang, CM1
Shu, HK2
Ravi, L3
Pelley, RJ4
Shu, H5
Kung, HJ6
-
25
-
-
0028328909
-
Deposition and selective degradation of structurally abnormal type I collagen matrix produced by osteogenesis imperfecta fibroblasts in vitro
-
JF Bateman SB Golub Deposition and selective degradation of structurally abnormal type I collagen matrix produced by osteogenesis imperfecta fibroblasts in vitro Matrix Biology 14 3 1994 251 262
-
(1994)
Matrix Biology
, vol.14
, Issue.3
, pp. 251-262
-
-
Bateman, JF1
Golub, SB2
|