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A. Ponzone

Veröffentlichungen von A. Ponzone zu Ponzone, A. ->
weitere Veröffentlichungen von A. Ponzone:
Differential diagnosis of tetrahydrobiopterin deficiency (1985)
Phenylalanine tolerance and metabolism in PKU: impact on newborn and heterozygote screening (1998)
Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test (1993)
Folates and homocystinuria (1988)
Dipylidium caninum in an infant (1993)
Characteristics of ferritins in human milk secretions: Similarities to serum and tissue isoferritins (1986)
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes (1993)
RFLPs of the phenylalanine hydroxylase gene in the Italian population (1989)
Atypical phenylketonuria with “dihydrobiopterin synthetase” deficiency: Absence of phosphate-eliminating enzyme activity demonstrated in liver (1985)
Neurotransmitter therapy and diet in malignant phenylketonuria (1987)
Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency (1994)
Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: Influence of different phenylalanine hydroxylase mutations (1998)
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue (1994)
Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein (1986)
Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype (1990)
Veröffentlichungen zu Ponzone, A.
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1
Niederwieser, A., Ponzone, A., ... Differential diagnosis of tetrahydrobiopterin deficiency
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 8 (1. 1985), p. 34-38
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1985
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2
Ponzone, A., Carbonara, C., ... Phenylalanine tolerance and metabolism in PKU: impact on newborn and heterozygote screening
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 21 (3. 1998), p. 8-13
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1998
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3
Ponzone, A., Guardamagna, O., ... Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test
in: European journal of pediatrics , ISSN 1432-1076, Vol. 152 (8. 1993), p. 655-661
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1993
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4
Ferraris, S., Bonetti, G., ... Folates and homocystinuria
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 11 (3. 1988), p. 310-311
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1988
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5
Ferraris, S., Reverso, E., ... Dipylidium caninum in an infant
in: European journal of pediatrics , ISSN 1432-1076, Vol. 152 (8. 1993), p. 702-702
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1993
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6
Arosio, P., Ponzone, A., ... Characteristics of ferritins in human milk secretions: Similarities to serum and tissue isoferritins
in: Clinica Chimica Acta, in: Clinica Chimica Acta . - Amsterdam : Elsevier, ISSN 0009-8981, ZDB-ID 1499920-1 Vol. 161, No. 2 (1986), p. 201-208
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1986
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7
Ponzone, A., Guardamagna, O., ... Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes
in: Clinica Chimica Acta, in: Clinica Chimica Acta . - Amsterdam : Elsevier, ISSN 0009-8981, ZDB-ID 1499920-1 Vol. 216, No. 1-2 (1993), p. 63-71
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1993
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8
Dianzani, I., Farinasso, L., ... RFLPs of the phenylalanine hydroxylase gene in the Italian population
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 12 (2. 1989), p. 162-165
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1989
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9
Niederwieser, A., Leimbacher, W., ... Atypical phenylketonuria with “dihydrobiopterin synthetase” deficiency: Absence of phosphate-eliminating enzyme activity demonstrated in liver
in: European journal of pediatrics , ISSN 1432-1076, Vol. 144 (1. 1985), p. 13-16
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1985
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10
Ponzone, A., Guardamagna, O., ... Neurotransmitter therapy and diet in malignant phenylketonuria
in: European journal of pediatrics , ISSN 1432-1076, Vol. 146 (1. 1987), p. 93-94
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1987
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11
Ponzone, A., Ferraris, S., ... Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency
in: European journal of pediatrics , ISSN 1432-1076, Vol. 153 (8. 1994), p. 616-616
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1994
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12
Spada, M., Dianzani, I., ... Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: Influence of different phenylalanine hydroxylase mutations
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 21 (3. 1998), p. 236-239
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1998
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13
Blau, N., Kierat, L., ... Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue
in: Clinica Chimica Acta, in: Clinica Chimica Acta . - Amsterdam : Elsevier, ISSN 0009-8981, ZDB-ID 1499920-1 Vol. 226, No. 2 (1994), p. 159-169
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1994
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14
Cotton, R. G. H., Jennings, I., ... Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 9 (3. 1986), p. 239-243
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1986
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15
Ponzone, A., Blau, N., ... Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 13 (3. 1990), p. 298-300
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1990
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16
Ponzone, A., Spada, M., ... Phenotyping of phenylketonuric patients by oral phenylalanine loading
in: European journal of pediatrics , ISSN 1432-1076, Vol. 155 (6. 1996), p. 523-525
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1996
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17
Sanctis, L., Bruno, M., ... Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 19 (2. 1996), p. 243-245
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1996
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18
Dianzani, I., Camaschella, C., ... Dilemmas and progress in mutation detection
in: Trends in Genetics, in: Trends in Genetics . - Amsterdam : Elsevier, ISSN 0168-9525, ZDB-ID 2010993-3 Vol. 9, No. 12 (1993), p. 403-405
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1993
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19
Spada, M., Ferraris, S., ... Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 19 (2. 1996), p. 231-233
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1996
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20
de Sanctis, L., Alliaudi, C., ... Genotype–phenotype correlation in dihydropteridine reductase deficiency
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 23 (4. 2000), p. 333-337
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2000