-
1
-
-
0008550332
-
Increased excretion of coproporphyrin I in a patient with hereditary tyrosinaemia type I. Relevant changes with NTBC treatment
-
1. Depetris-Boldini C, Galetto R, Videla MP, De Kremer-Dodelson R (1998) Increased excretion of coproporphyrin I in a patient with hereditary tyrosinaemia type I. Relevant changes with NTBC treatment (abstract). J Inher Metab Dis 21[Suppl 2]: 25
-
(1998)
J Inher Metab Dis
, vol.21
, Issue.SUPPL. 2
, pp. 25
-
-
Depetris-Boldini, C.1
Galetto, R.2
Videla, M.P.3
De Kremer-Dodelson, R.4
-
3
-
-
0000016355
-
The porphyrias
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill, New York
-
3. Kappas A, Sassa S, Galbraith RA, Nordmann Y (1995) The Porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 2103-2159
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn.
, pp. 2103-2159
-
-
Kappas, A.1
Sassa, S.2
Galbraith, R.A.3
Nordmann, Y.4
-
4
-
-
0008582694
-
Porphyrins and disorders of porphyrin metabolism
-
Tietz NN (ed). WB Saunders, Philadelphia
-
4. Labbe RF, Lamon JM (1986) Porphyrins and disorders of porphyrin metabolism. In: Tietz NN (ed) Textbook of clinical chemistry. WB Saunders, Philadelphia, pp 1589-1614
-
(1986)
Textbook of Clinical Chemistry
, pp. 1589-1614
-
-
Labbe, R.F.1
Lamon, J.M.2
-
5
-
-
0029051819
-
Neonatal bullous eruption as a result of transient porphyrinemia in a premature infant with hemolytic disease of the newborn
-
5. Mallon E, Wojnarowska F, Hope P, Elder G (1995) Neonatal bullous eruption as a result of transient porphyrinemia in a premature infant with hemolytic disease of the newborn. J Am Acad Dermatol 33: 333-336
-
(1995)
J Am Acad Dermatol
, vol.33
, pp. 333-336
-
-
Mallon, E.1
Wojnarowska, F.2
Hope, P.3
Elder, G.4
-
6
-
-
0019028060
-
Abnormal porphyrin metabolism in diseases other than porphyria
-
6. McColl KEL, Goldbergh A (1980) Abnormal porphyrin metabolism in diseases other than porphyria. Clin Haematol 9: 427-444
-
(1980)
Clin Haematol
, vol.9
, pp. 427-444
-
-
McColl, K.E.L.1
Goldbergh, A.2
-
7
-
-
0029938764
-
Age-dependent reference values of urinary porphyrins in children
-
7. Minder EI, Schneider-Yin X (1996) Age-dependent reference values of urinary porphyrins in children. Eur J Clin Chem Clin Biochem 34: 439-443
-
(1996)
Eur J Clin Chem Clin Biochem
, vol.34
, pp. 439-443
-
-
Minder, E.I.1
Schneider-Yin, X.2
-
8
-
-
0000362736
-
Hypertyrosinemia
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill, New York
-
8. Mitchell GA, Lambert M, Tanguay RM (1995) Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 1077-1106
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn.
, pp. 1077-1106
-
-
Mitchell, G.A.1
Lambert, M.2
Tanguay, R.M.3
-
9
-
-
0000167774
-
Disorders of transsulfuration
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill, New York
-
9. Mudd SH, Levy HL, Skovby F (1995) Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 1279-1327
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn.
, pp. 1279-1327
-
-
Mudd, S.H.1
Levy, H.L.2
Skovby, F.3
-
10
-
-
0030986540
-
Purpuric phototherapy-induced eruptions in transfused neonates: Relation to transient porphyrin-emia
-
10. Paller AS, Eramo LR, Farrell EE, Millard DD, Honig PJ, Cunningham BB (1997) Purpuric phototherapy-induced eruptions in transfused neonates: relation to transient porphyrin-emia. Pediatrics 100: 360-364
-
(1997)
Pediatrics
, vol.100
, pp. 360-364
-
-
Paller, A.S.1
Eramo, L.R.2
Farrell, E.E.3
Millard, D.D.4
Honig, P.J.5
Cunningham, B.B.6
-
11
-
-
0029926453
-
The bronze baby syndrome: Evidence of increased tissue concentration of copper porphyrins
-
11. Rubaltelli FF, Da Riol R, D'Amore ESG, Jori G (1996) The bronze baby syndrome: evidence of increased tissue concentration of copper porphyrins. Acta Paediatr 85: 381-384
-
(1996)
Acta Paediatr
, vol.85
, pp. 381-384
-
-
Rubaltelli, F.F.1
Da Riol, R.2
D'Amore, E.S.G.3
Jori, G.4
|