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P Augoustides-Savvopoulou

Showing results (1-10 of 10) with videos related to

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Lancet (London, England)|June 6, 2003
Hashimoto's enchephalopathyP Augoustides-Savvopoulou, I Mylonas, C Bairaktaris
Journal of Inherited Metabolic Disease|September 3, 1999
Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same familyP Augoustides-Savvopoulou, I Mylonas, A C Sewell, et al.
Hippokratia|July 8, 2009
Efficacy of captopril therapy in cystinuria lithiasis. A case reportN Printza, F Koukourgianni, A Papathanasiou, et al.
Molecular Genetics and Metabolism|June 1, 2007
Mutation analysis a prerequisite for prenatal diagnosis of L-2-hydroxyglutaric aciduria?P Augoustides-Savvopoulou, G S Salomons, J Dotis, et al.
Journal of Inherited Metabolic Disease|January 24, 2004
Glycine N -methyltransferase deficiency: a new patient with a novel mutationP Augoustides-Savvopoulou, Z Luka, S Karyda, et al.
Journal of Inherited Metabolic Disease|September 19, 2007
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek childM Fotoulaki, E H Schuchman, C M Simonaro, et al.
Neuropediatrics|October 1, 2011
Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imagingM E van Egmond, R J Vermeulen, C M P C D Peeters-Scholte, et al.
Neuropediatrics|August 23, 2007
Ethylmalonic encephalopathy: clinical and biochemical observationsD I Zafeiriou, P Augoustides-Savvopoulou, D Haas, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiencyB S Andresen, S Olpin, E A Kvittingen, et al.
Journal of Inherited Metabolic Disease|December 21, 2014
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study dataM Huemer, C Bürer, P Ješina, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Lancet (London, England)|June 6, 2003
Hashimoto's enchephalopathyP Augoustides-Savvopoulou, I Mylonas, C Bairaktaris
Journal of Inherited Metabolic Disease|September 3, 1999
Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same familyP Augoustides-Savvopoulou, I Mylonas, A C Sewell, et al.
Hippokratia|July 8, 2009
Efficacy of captopril therapy in cystinuria lithiasis. A case reportN Printza, F Koukourgianni, A Papathanasiou, et al.
Molecular Genetics and Metabolism|June 1, 2007
Mutation analysis a prerequisite for prenatal diagnosis of L-2-hydroxyglutaric aciduria?P Augoustides-Savvopoulou, G S Salomons, J Dotis, et al.
Journal of Inherited Metabolic Disease|January 24, 2004
Glycine N -methyltransferase deficiency: a new patient with a novel mutationP Augoustides-Savvopoulou, Z Luka, S Karyda, et al.
Journal of Inherited Metabolic Disease|September 19, 2007
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek childM Fotoulaki, E H Schuchman, C M Simonaro, et al.
Neuropediatrics|October 1, 2011
Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imagingM E van Egmond, R J Vermeulen, C M P C D Peeters-Scholte, et al.
Neuropediatrics|August 23, 2007
Ethylmalonic encephalopathy: clinical and biochemical observationsD I Zafeiriou, P Augoustides-Savvopoulou, D Haas, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiencyB S Andresen, S Olpin, E A Kvittingen, et al.
Journal of Inherited Metabolic Disease|December 21, 2014
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study dataM Huemer, C Bürer, P Ješina, et al.
Pageof 1