-
1
-
-
0002481678
-
Cystinuria
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors, 8th ed. New York, McGraw-Hill;
-
Palacin M, Goodyer P, Nunes V, Gasparani P. Cystinuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York, McGraw-Hill; 2001. p 4909-32.
-
(2001)
The metabolic and molecular bases of inherited disease
, pp. 4909-4932
-
-
Palacin, M.1
Goodyer, P.2
Nunes, V.3
Gasparani, P.4
-
2
-
-
0041629322
-
Metabolic investigation of patients with urolithiasis in a specific region
-
Peres LA, Molina AS, Galles MH. Metabolic investigation of patients with urolithiasis in a specific region. Int Braz J Urol 2003;29:217-20.
-
(2003)
Int Braz J Urol
, vol.29
, pp. 217-220
-
-
Peres, L.A.1
Molina, A.S.2
Galles, M.H.3
-
4
-
-
4143062438
-
Medical management of pediatric stone disease
-
Bartosh SM. Medical management of pediatric stone disease. Urol Clin North Am 2004;31:575-87.
-
(2004)
Urol Clin North Am
, vol.31
, pp. 575-587
-
-
Bartosh, S.M.1
-
5
-
-
0032763035
-
Urolithiasis in Tunisian children: A study of 120 cases based on stone composition
-
Kamoun A, Daudon M, Abdelmoula J, Hamzaoui M, Chaouachi B, Houissa T, et al. Urolithiasis in Tunisian children: a study of 120 cases based on stone composition. Pediatr Nephrol 1999;13:920-5.
-
(1999)
Pediatr Nephrol
, vol.13
, pp. 920-925
-
-
Kamoun, A.1
Daudon, M.2
Abdelmoula, J.3
Hamzaoui, M.4
Chaouachi, B.5
Houissa, T.6
-
8
-
-
0025079967
-
Inherited metabolic disorders in Turkey
-
Ozalp I, Coskun T, Tokol S, Demircin G, Mönch E. Inherited metabolic disorders in Turkey. J Inherit Metab Dis 1990;13:732-8.
-
(1990)
J Inherit Metab Dis
, vol.13
, pp. 732-738
-
-
Ozalp, I.1
Coskun, T.2
Tokol, S.3
Demircin, G.4
Mönch, E.5
-
9
-
-
0032702573
-
A modified cyanide-nitroprusside method for quantifying urinary cystine concentration that corrects for creatinine interference
-
Nakagawa Y, Coe FL. A modified cyanide-nitroprusside method for quantifying urinary cystine concentration that corrects for creatinine interference. Clin Chim Acta 1999;289:57-68.
-
(1999)
Clin Chim Acta
, vol.289
, pp. 57-68
-
-
Nakagawa, Y.1
Coe, F.L.2
-
10
-
-
61349120311
-
-
Segal S, Thier SO. Cystinuria. In: Scriver CR, Beaudet AL. Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill; 1995. p 3581-601.
-
Segal S, Thier SO. Cystinuria. In: Scriver CR, Beaudet AL. Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill; 1995. p 3581-601.
-
-
-
-
11
-
-
0026096559
-
Diagnostic and genetic studies in 43 patients with classic cystinuria
-
Byrd DJ, Lind M, Brodehl J. Diagnostic and genetic studies in 43 patients with classic cystinuria. Clin Chem 1991;37:68-73.
-
(1991)
Clin Chem
, vol.37
, pp. 68-73
-
-
Byrd, D.J.1
Lind, M.2
Brodehl, J.3
-
12
-
-
34249781779
-
-
Nantö-Salonen K, Simell OG. Transport defects of aminoacids at the cell membrane: cystinuria, lysinuric protein intolerance and Hurtnup disorder. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, editors. Inborn metabolic diseases. 4th ed. Heidelberg: Springer Medizin; 2006. p 322-8.
-
Nantö-Salonen K, Simell OG. Transport defects of aminoacids at the cell membrane: cystinuria, lysinuric protein intolerance and Hurtnup disorder. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, editors. Inborn metabolic diseases. 4th ed. Heidelberg: Springer Medizin; 2006. p 322-8.
-
-
-
-
13
-
-
0035317437
-
Molecular genetic analyses of cystinuria type 1 in 24 Turkish patients
-
Dayangaç D, Kalkanoglu HS, Durmus-Aydogdu S, Erdem H, Besbas N, Coskun T. Molecular genetic analyses of cystinuria type 1 in 24 Turkish patients. Turk J Pediatr 2001;43:110-3.
-
(2001)
Turk J Pediatr
, vol.43
, pp. 110-113
-
-
Dayangaç, D.1
Kalkanoglu, H.S.2
Durmus-Aydogdu, S.3
Erdem, H.4
Besbas, N.5
Coskun, T.6
-
14
-
-
0035021941
-
Cystine calculi in children: The results of a metabolic evaluation and response to medical therapy
-
Tekin A, Tekgul S, Atsu N, Sahin A, Bakkaloglu M. Cystine calculi in children: the results of a metabolic evaluation and response to medical therapy. J Urol 2001;165:2328-30.
-
(2001)
J Urol
, vol.165
, pp. 2328-2330
-
-
Tekin, A.1
Tekgul, S.2
Atsu, N.3
Sahin, A.4
Bakkaloglu, M.5
-
15
-
-
8144223367
-
Cystinuria: Definition, epidemiology and clinical aspects
-
Trinchieri A, Dormia G, Montanari E, Zanetti G. Cystinuria: definition, epidemiology and clinical aspects. Arch Ital Urol Androl 2004;76:129-34.
-
(2004)
Arch Ital Urol Androl
, vol.76
, pp. 129-134
-
-
Trinchieri, A.1
Dormia, G.2
Montanari, E.3
Zanetti, G.4
-
17
-
-
0024401739
-
Cystinuria and its treatment: 25 years experience at St Bartholomew's Hospital
-
Stephens AD. Cystinuria and its treatment: 25 years experience at St Bartholomew's Hospital. J Inherit Metab Dis 1989;12:197-209.
-
(1989)
J Inherit Metab Dis
, vol.12
, pp. 197-209
-
-
Stephens, A.D.1
-
18
-
-
0030853569
-
Studies on renal function in patients with cystinuria
-
Lindell A, Denneberg T, Granerus G. Studies on renal function in patients with cystinuria. Nephron 1997;77:76-85.
-
(1997)
Nephron
, vol.77
, pp. 76-85
-
-
Lindell, A.1
Denneberg, T.2
Granerus, G.3
-
19
-
-
0031846432
-
The value of family screening for patients with cystine stone disease in northern Jordan
-
Bani Hani I, Mathani Y, Smadi I. The value of family screening for patients with cystine stone disease in northern Jordan. Br J Urol 1998;81:663-5.
-
(1998)
Br J Urol
, vol.81
, pp. 663-665
-
-
Bani Hani, I.1
Mathani, Y.2
Smadi, I.3
|