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1

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Marian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, Robert Pomponio, Ans Van der Ploeg, Dicky Halley, Arnold Reuser, GAA Database Consortium:, Persephone Augoustides-Savvopoulou, Margreet

Journal:

Year:

2012

Language:

english

File:

PDF, 148 KB

english, 2012

2

Acid sphingomyelinase-deficient Niemann–Pick disease: Novel findings in a Greek child

M. Fotoulaki, E. H. Schuchman, C. M. Simonaro, P. Augoustides-Savvopoulou, H. Michelakakis, P. Panagopoulou, G. Varlamis, S. Nousia-Arvanitakis

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 138 KB

english, 2007

3

Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family

P. Augoustides-Savvopoulou, I. Mylonas, A. C. Sewell, D. S. Rosenblatt

Journal:

Journal of Inherited Metabolic Disease

Year:

1999

Language:

english

File:

PDF, 40 KB

english, 1999

4

DNA-based prenatal diagnosis for very-long- chain acyl-CoA dehydrogenase deficiency

B. S. Andresen, S. Olpin, E. A. Kvittingen, P. Augoustides-Savvopoulou, D. Lindhout, D. J. J. Halley, C. Vianey-Saban, R. J. A. Wanders, L. IJlst, L. D. Schroeder, L. Bolund, N. Gregersen

Journal:

Journal of Inherited Metabolic Disease

Year:

1999

Language:

english

File:

PDF, 62 KB

english, 1999

5

Plasma citrulline levels in preterm neonates with necrotizing enterocolitis

Harikleia P. Ioannou, Elisavet Diamanti, Kalliopi Piretzi, Vasiliki Drossou-Agakidou, Persephone Augoustides-Savvopoulou

Journal:

Early Human Development

Year:

2012

Language:

english

File:

PDF, 246 KB

english, 2012

6

Mutation analysis a prerequisite for prenatal diagnosis of l-2-hydroxyglutaric aciduria?

P. Augoustides-Savvopoulou, G.S. Salomons, J. Dotis, E. Roilides, M. Leontsini, C. Jakobs, C. Panteliadis

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 104 KB

english, 2007

7

227 Plasma citrulline levels in cystic fibrosis patients

H.P. Ioannou, M. Fotoulaki, P. Augoustides-Savvopoulou

Journal:

Journal of Cystic Fibrosis

Year:

2012

Language:

english

File:

PDF, 64 KB

english, 2012

8

Hashimoto's encephalopathy

P Augoustides-Savvopoulou, I Mylonas, C Bairaktaris

Journal:

Year:

2003

Language:

english

File:

PDF, 50 KB

english, 2003

9

Plasma amino acid levels in cystic fibrosis patients

H.P. Ioannou, M. Fotoulaki, K. Vasilaki, P. Augoustides-Savvopoulou

Journal:

Journal of Cystic Fibrosis

Year:

2009

Language:

english

File:

PDF, 62 KB

english, 2009

10

Neuroprotective Effect of Long-term MgSO4 Administration After Cerebral Hypoxia-Ischemia in Newborn Rats Is Related to the Severity of Brain Damage

Spandou, E., Soubasi, V., Papoutsopoulou, S., Augoustides-Savvopoulou, P., Loizidis, T., Pazaiti, A., Karkavelas, G., Guiba-Tziampiri, O.

Journal:

Reproductive Sciences

Year:

2007

Language:

english

File:

PDF, 422 KB

english, 2007

11

Proteomics Reveals that Redox Regulation Is Disrupted in Patients with Ethylmalonic Encephalopathy

Palmfeldt, Johan, Vang, Søren, Stenbroen, Vibeke, Pavlou, Evangelos, Baycheva, Mila, Buchal, Gebhard, Monavari, Ardeshir Ahmad, Augoustides-Savvopoulou, Persephone, Mandel, Hanna, Gregersen, Niels

Journal:

Journal of Proteome Research

Year:

2011

Language:

english

File:

PDF, 1.61 MB

english, 2011

12

l -2-Hydroxyglutaric Aciduria: Pattern of MR Imaging Abnormalities in 56 Patients 1

Steenweg, Marjan E., Salomons, Gajja S., Yapici, Zuhal, Uziel, Graziella, Scalais, Emmanuel, Zafeiriou, Dimitrios I., Ruiz-Falco, Maria L., Mejaški-Bošnjak, Vlatka, Augoustides-Savvopoulou, Persephone

Journal:

Year:

2009

Language:

english

File:

PDF, 359 KB

english, 2009

13

An Infant With Ethylmalonic Encephalopathy Masquerading as a Hematologic Disorder

Pavlou, E., Augoustides-Savvopoulou, P., Gregersen, N., Haas, D., Gkampeta, A., Athanassiadou-Piperopoulou, F.

Journal:

Journal of Child Neurology

Year:

2013

Language:

english

File:

PDF, 205 KB

english, 2013

14

Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency as the Unsuspected Cause of Renal Disease Spanning Three Generations: A Cautionary Tale

Augoustides-Savvopoulou, P., Papachristou, F., Fairbanks, L. D., Dimitrakopoulos, K., Marinaki, A. M., Simmonds, H. A.

Journal:

Year:

2002

Language:

english

File:

PDF, 255 KB

english, 2002

15

Ethylmalonic Encephalopathy: Clinical and Biochemical Observations

Zafeiriou, D., Augoustides-Savvopoulou, P., Haas, D., Smet, J., Triantafyllou, P., Vargiami, E., Tamiolaki, M., Gombakis, N., van Coster, R., Sewell, A., Vianey-Saban, C., Gregersen, N.

Journal:

Neuropediatrics

Year:

2007

Language:

english

File:

PDF, 240 KB

english, 2007

16

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

S. Kölker, A. G. Cazorla, V. Valayannopoulos, A. M. Lund, A. B. Burlina, J. Sykut-cegielska, F. A. Wijburg, E. L. Teles, J. Zeman, C. Dionisi-vici, I. Barić, D. Karall, P. Augoustides-savvopoulou, L.

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

File:

PDF, 86 KB

2015

17

Familial Hemophagocytic Lymphohistiocytosis in a Pediatric Patient Diagnosed by Brain Magnetic Resonance Imaging

van Egmond, M., Vermeulen, R., Peeters-Scholte, C.M.P.C., Augoustides-Savvopoulou, P., Abbink, F., Boelens, J., van der Knaap, M.

Journal:

Neuropediatrics

Year:

2011

Language:

english

File:

PDF, 238 KB

english, 2011

18

Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene

Kefala-Agoropoulou, Kalomoira, Roilides, Emmanuel, Lazaridou, Anna, Karatza, Eliza, Farmaki, Evangelia, Tsantali, Haido, Augoustides-Savvopoulou, Persephone, Tsiouris, John

Journal:

Hematology (American Society of Hematology)

Year:

2007

Language:

english

File:

PDF, 141 KB

english, 2007

19

Malnutrition in Hospitalized Pediatric Patients: Assessment, Prevalence, and Association to Adverse Outcomes

Daskalou, Efstratia, Galli-Tsinopoulou, Assimina, Karagiozoglou-Lampoudi, Thomais, Augoustides-Savvopoulou, Persefone

Journal:

Journal of the American College of Nutrition

Year:

2015

Language:

english

File:

PDF, 288 KB

english, 2015

20

Plasma citrulline levels in paediatric patients with celiac disease and the effect of a gluten-free diet

Ioannou, Harikleia P., Fotoulaki, Maria, Pavlitou, Aikaterini, Efstratiou, Ioannis, Augoustides-Savvopoulou, Persephone

Journal:

European Journal of Gastroenterology & Hepatology

Year:

2011

Language:

english

File:

PDF, 188 KB

english, 2011

21

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders

Barić, Ivo, Staufner, Christian, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Dobbelaere, Dries, Grünert, Sarah C., Opladen, Thomas, Petković Ramadža, Danijela, Rakić, Bojana, Wedell, Anna, B

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 587 KB

english, 2017

22

THE POSSIBLE ROLE OF RECOMBINANT HUMAN ERYTHROPOIETIN (rHuEPO) AS AN ANTIOXIDANT IN PREMATURE NEONATES (pilot study)

Soubasi, Vassiliki, Kremenopoulos, George, Augoustides-Savvopoulou, Persephone, Tsantali, Chaido, Kyfonidis, Dimitrios

Journal:

Pediatric Research

Year:

1999

File:

PDF, 70 KB

1999