-
1
-
-
0003720078
-
-
8th Ed, New York, McGraw-Hill, Medical Publishing Division
-
Scriver C, Childs B: The Metabolic and Molecular Bases of Inherited Disease, 8th Ed., New York, McGraw-Hill, Medical Publishing Division, 2005
-
(2005)
The Metabolic and Molecular Bases of Inherited Disease
-
-
Scriver, C.1
Childs, B.2
-
2
-
-
84895213486
-
-
4th Ed, Berlin, Springer
-
Fernandes J, Saudubray JM, Berghe GVD: Inborn Metabolic Diseases: Diagnosis and Treatment, 4th Ed., Berlin, Springer, 2006
-
(2006)
Inborn Metabolic Diseases: Diagnosis and Treatment
-
-
Fernandes, J.1
Saudubray, J.M.2
Berghe, G.V.D.3
-
3
-
-
0036387417
-
Glycogen storage disease type I: Diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)
-
Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP: Glycogen storage disease type I: Diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 161[Suppl 1]: S20-S34, 2002
-
(2002)
Eur J Pediatr
, vol.161
, Issue.SUPPL. 1
-
-
Rake, J.P.1
Visser, G.2
Labrune, P.3
Leonard, J.V.4
Ullrich, K.5
Smit, G.P.6
-
4
-
-
0027468022
-
Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease
-
Restaino I, Kaplan BS, Stanley C, Baker L: Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease. J Pediatr 122: 392-396, 1993
-
(1993)
J Pediatr
, vol.122
, pp. 392-396
-
-
Restaino, I.1
Kaplan, B.S.2
Stanley, C.3
Baker, L.4
-
5
-
-
0034745335
-
Decreased urinary citrate excretion in type 1a glycogen storage disease
-
Weinstein DA, Somers MJ, Wolfsdorf JI: Decreased urinary citrate excretion in type 1a glycogen storage disease. J Pediatr 138: 378-382, 2001
-
(2001)
J Pediatr
, vol.138
, pp. 378-382
-
-
Weinstein, D.A.1
Somers, M.J.2
Wolfsdorf, J.I.3
-
6
-
-
0027154902
-
Renal complications in glycogen storage disease type I
-
Reitsma-Bierens WC: Renal complications in glycogen storage disease type I. Eur J Pediatr 152[Suppl 1]: S60-S62, 1993
-
(1993)
Eur J Pediatr
, vol.152
, Issue.SUPPL. 1
-
-
Reitsma-Bierens, W.C.1
-
7
-
-
0029559320
-
Glomerular and tubular function in glycogen storage disease
-
Lee PJ, Dalton RN, Shah V, Hindmarsh PC, Leonard JV: Glomerular and tubular function in glycogen storage disease. Pediatr Nephrol 9: 705-710, 1995
-
(1995)
Pediatr Nephrol
, vol.9
, pp. 705-710
-
-
Lee, P.J.1
Dalton, R.N.2
Shah, V.3
Hindmarsh, P.C.4
Leonard, J.V.5
-
8
-
-
0029092727
-
The hepatic glycogen storage diseases: Problems beyond childhood
-
Lee PJ, Leonard JV: The hepatic glycogen storage diseases: Problems beyond childhood. J Inherit Metab Dis 18: 462-472, 1995
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 462-472
-
-
Lee, P.J.1
Leonard, J.V.2
-
9
-
-
0025975050
-
Type I glycogen storage disease: Kidney involvement, pathogenesis and its treatment
-
Chen YT: Type I glycogen storage disease: Kidney involvement, pathogenesis and its treatment. Pediatr Nephrol 5: 71-76, 1991
-
(1991)
Pediatr Nephrol
, vol.5
, pp. 71-76
-
-
Chen, Y.T.1
-
10
-
-
0024390176
-
Hyperfiltration and renal disease in glycogen storage disease, type I
-
Baker L, Dahlem S, Goldfarb S, Kern EF, Stanley CA, Egler J, Olshan JS, Heyman S: Hyperfiltration and renal disease in glycogen storage disease, type I. Kidney Int 35: 1345-1350, 1989
-
(1989)
Kidney Int
, vol.35
, pp. 1345-1350
-
-
Baker, L.1
Dahlem, S.2
Goldfarb, S.3
Kern, E.F.4
Stanley, C.A.5
Egler, J.6
Olshan, J.S.7
Heyman, S.8
-
11
-
-
0023858590
-
Renal disease in type I glycogen storage disease
-
Chen YT, Coleman RA, Scheinman JI, Kolbeck PC, Sidbury JB: Renal disease in type I glycogen storage disease. N Engl J Med 318: 7-11, 1988
-
(1988)
N Engl J Med
, vol.318
, pp. 7-11
-
-
Chen, Y.T.1
Coleman, R.A.2
Scheinman, J.I.3
Kolbeck, P.C.4
Sidbury, J.B.5
-
12
-
-
0036656321
-
Glycogenosis type I and diabetes mellitus: A common mechanism for renal dysfunction?
-
Mundy HR, Lee PJ: Glycogenosis type I and diabetes mellitus: A common mechanism for renal dysfunction? Med Hypotheses 59: 110-114, 2002
-
(2002)
Med Hypotheses
, vol.59
, pp. 110-114
-
-
Mundy, H.R.1
Lee, P.J.2
-
13
-
-
33645469728
-
Role of blood pressure targets and specific antihypertensive agents used to prevent diabetic nephropathy and delay its progression
-
Strippoli GF, Craig MC, Schena FP, Craig JC: Role of blood pressure targets and specific antihypertensive agents used to prevent diabetic nephropathy and delay its progression. J Am Soc Nephrol 17: S153-S155, 2006
-
(2006)
J Am Soc Nephrol
, vol.17
-
-
Strippoli, G.F.1
Craig, M.C.2
Schena, F.P.3
Craig, J.C.4
-
15
-
-
22044453413
-
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: A multicentre retrospective study
-
Melis D, Parenti G, Gatti R, Casa RD, Parini R, Riva E, Burlina AB, Vici CD, Di RM, Furlan F, Torcoletti M, Papadia F, Donati A, Benigno V, Andria G: Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: A multicentre retrospective study. Clin Endocrinol (Oxf) 63: 19-25, 2005
-
(2005)
Clin Endocrinol (Oxf)
, vol.63
, pp. 19-25
-
-
Melis, D.1
Parenti, G.2
Gatti, R.3
Casa, R.D.4
Parini, R.5
Riva, E.6
Burlina, A.B.7
Vici, C.D.8
Di, R.M.9
Furlan, F.10
Torcoletti, M.11
Papadia, F.12
Donati, A.13
Benigno, V.14
Andria, G.15
-
16
-
-
0030122480
-
Precision of glomerular filtration rate determinations for longterm slope calculations is improved by simultaneous infusion of 125I-iothalamate and 131I-hippuran
-
Apperloo AJ, de Zeeuw D, Donker AJ, de Jong PE: Precision of glomerular filtration rate determinations for longterm slope calculations is improved by simultaneous infusion of 125I-iothalamate and 131I-hippuran. J Am Soc Nephrol 7: 567-572, 1996
-
(1996)
J Am Soc Nephrol
, vol.7
, pp. 567-572
-
-
Apperloo, A.J.1
de Zeeuw, D.2
Donker, A.J.3
de Jong, P.E.4
-
17
-
-
33845360421
-
Revisiting normal (51) Crethylenediaminetetraacetic acid clearance values in children
-
Piepsz A, Tondeur M, Ham H: Revisiting normal (51) Crethylenediaminetetraacetic acid clearance values in children. Eur J Nucl Med Mol Imaging 33: 1477-1482, 2006
-
(2006)
Eur J Nucl Med Mol Imaging
, vol.33
, pp. 1477-1482
-
-
Piepsz, A.1
Tondeur, M.2
Ham, H.3
-
18
-
-
0029800129
-
-
Update on the 1987 Task Force Report on High Blood Pressure in Children and Adolescents: A working group report from the National High Blood Pressure Education Program. National High Blood Pressure Education Program Working Group on Hypertension Control in Children and Adolescents. Pediatrics 98:649-658, 1996
-
Update on the 1987 Task Force Report on High Blood Pressure in Children and Adolescents: A working group report from the National High Blood Pressure Education Program. National High Blood Pressure Education Program Working Group on Hypertension Control in Children and Adolescents. Pediatrics 98:649-658, 1996
-
-
-
-
19
-
-
0036387478
-
Guidelines for management of glycogen storage disease type I-European Study on Glycogen Storage Disease Type I (ESGSD I)
-
Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP: Guidelines for management of glycogen storage disease type I-European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 161[Suppl 1]: S112-S119, 2002
-
(2002)
Eur J Pediatr
, vol.161
, Issue.SUPPL. 1
-
-
Rake, J.P.1
Visser, G.2
Labrune, P.3
Leonard, J.V.4
Ullrich, K.5
Smit, G.P.6
-
20
-
-
0027531752
-
Renal histology in two adult patients with type I glycogen storage disease
-
Obara K, Saito T, Sato H, Ogawa M, Igarashi Y, Yoshinaga K: Renal histology in two adult patients with type I glycogen storage disease. Clin Nephrol 39: 59-64, 1993
-
(1993)
Clin Nephrol
, vol.39
, pp. 59-64
-
-
Obara, K.1
Saito, T.2
Sato, H.3
Ogawa, M.4
Igarashi, Y.5
Yoshinaga, K.6
-
21
-
-
0023872905
-
Renal glomerular and tubular abnormalities in glycogen storage disease type I
-
Verani R, Bernstein J: Renal glomerular and tubular abnormalities in glycogen storage disease type I. Arch Pathol Lab Med 112: 271-274, 1988
-
(1988)
Arch Pathol Lab Med
, vol.112
, pp. 271-274
-
-
Verani, R.1
Bernstein, J.2
-
22
-
-
0036387470
-
Is glycogen storage disease 1a associated with atherosclerosis?
-
Ubels FL, Rake JP, Slaets JP, Smit GP, Smit AJ: Is glycogen storage disease 1a associated with atherosclerosis? Eur J Pediatr 161[Suppl 1]: S62-S64, 2002
-
(2002)
Eur J Pediatr
, vol.161
, Issue.SUPPL. 1
-
-
Ubels, F.L.1
Rake, J.P.2
Slaets, J.P.3
Smit, G.P.4
Smit, A.J.5
|