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B. Garavaglia

Veröffentlichungen von B. Garavaglia zu Garavaglia, B. ->
weitere Veröffentlichungen von B. Garavaglia:
A case of Refsum disease with atypical clinical picture in family members (1989)
Impaired degradation of phytanic acid in cells from patients with mitochondriopathies: Evidence for the involvement of ETF and the respiratory chain in phytanic acid α-oxidation (1994)
Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency (1984)
Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency (1993)
Muscle cytochromec oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype (1994)
Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency (1995)
Medium-chain triglyceride loading test in carnitine–acylcarnitine translocase deficiency: Insights on treatment (1999)
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion (2000)
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency (1992)
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency (1998)
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency (1998)
Fourth metting of the European Neurological Society 25–29 June 1994 Barcelona, Spain (1994)
Veröffentlichungen zu Garavaglia, B.
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1
Marano, R., Soliveri, P., ... A case of Refsum disease with atypical clinical picture in family members
in: Neurological sciences , ISSN 1590-3478, Vol. 10 (4. 1989), p. 451-454
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1989
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2
Fingerhut, R., Schmitz, W., ... Impaired degradation of phytanic acid in cells from patients with mitochondriopathies: Evidence for the involvement of ETF and the respiratory chain in phytanic acid α-oxidation
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 17 (5. 1994), p. 527-532
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1994
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3
Di Donato, S., Rimoldi, M., ... Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency
in: Clinica Chimica Acta, in: Clinica Chimica Acta . - Amsterdam : Elsevier, ISSN 0009-8981, ZDB-ID 1499920-1 Vol. 139, No. 1 (1984), p. 13-21
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1984
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4
Burlina, A. B., Milanesi, O., ... Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency
in: European journal of pediatrics , ISSN 1432-1076, Vol. 152 (6. 1993), p. 537-537
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1993
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5
Garavaglia, B., Colamaria, V., ... Muscle cytochromec oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 17 (3. 1994), p. 301-303
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1994
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6
Briones, P., Garavaglia, B., ... Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 18 (2. 1995), p. 237-240
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1995
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7
Parini, R., Invernizzi, F., ... Medium-chain triglyceride loading test in carnitine–acylcarnitine translocase deficiency: Insights on treatment
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 22 (6. 1999), p. 733-739
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1999
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8
Poggi, G. M., Lamantea, E., ... Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion
in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 23 (7. 2000), p. 755-757
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2000
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9
Bertini, E., Dionisi-Vici, C., ... Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency
in: European journal of pediatrics , ISSN 1432-1076, Vol. 151 (2. 1992), p. 121-126
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1992
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10
Ribes, A., Riudor, E., ... Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency
in: European journal of pediatrics , ISSN 1432-1076, Vol. 157 (4. 1998), p. 317-320
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1998
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11
Parini, R., Menni, F., ... Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency
in: European journal of pediatrics , ISSN 1432-1076, Vol. 157 (12. 1998), p. 992-995
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1998
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12
Harms, L., Bock, A., ... Fourth metting of the European Neurological Society 25–29 June 1994 Barcelona, Spain
in: Journal of neurology , ISSN 1432-1459, Vol. 241 (1. 1994), p. 1-164
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1994