Drogari E - Search Results

1

International practices in the dietary management of fructose 1-6 biphosphatase deficiency.

Pinto A, Alfadhel M, Akroyd R, Atik Altınok Y, Bernabei SM, Bernstein L, Bruni G, Caine G, Cameron E, Carruthers R, Cochrane B, Daly A, de Boer F, Delaunay S, Dianin A, Dixon M, Drogari E, Dubois S, Evans S, Gribben J, Gugelmo G, Heidenborg C, Hunjan I, Kok IL, Kumru B, Liguori A, Mayr D, Megdad E, Meyer U, Oliveira RB, Pal A, Pozzoli A, Pretese R, Rocha JC, Rosenbaum-Fabian S, Serrano-Nieto J, Sjoqvist E, Timmer C, White L, van den Hurk T, van Rijn M, Zweers H, Ziadlou M, MacDonald A. Pinto A, et al. Among authors: drogari e. Orphanet J Rare Dis. 2018 Jan 25;13(1):21. doi: 10.1186/s13023-018-0760-3. Orphanet J Rare Dis. 2018. PMID: 29370874 Free PMC article.

2

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

van Wegberg AMJ, Trefz F, Gizewska M, Ahmed S, Chabraoui L, Zaki MS, Maillot F, van Spronsen FJ; Study Group on Missed PKU and Missed to Follow-Up. van Wegberg AMJ, et al. J Pediatr. 2021 Dec;239:231-234.e2. doi: 10.1016/j.jpeds.2021.08.070. Epub 2021 Aug 30. J Pediatr. 2021. PMID: 34474089 Free article.

3

Late onset ornithine carbamoyl transferase deficiency in males.

Drogari E, Leonard JV. Drogari E, et al. Arch Dis Child. 1988 Nov;63(11):1363-7. doi: 10.1136/adc.63.11.1363. Arch Dis Child. 1988. PMID: 3202644 Free PMC article.

4

Timing of strict diet in relation to fetal damage in maternal phenylketonuria. An international collaborative study by the MRC/DHSS Phenylketonuria Register.

Drogari E, Smith I, Beasley M, Lloyd JK. Drogari E, et al. Lancet. 1987 Oct 24;2(8565):927-30. doi: 10.1016/s0140-6736(87)91418-8. Lancet. 1987. PMID: 2889860

5

POR*28 SNP is associated with lipid response to atorvastatin in children and adolescents with familial hypercholesterolemia.

Drogari E, Ragia G, Mollaki V, Elens L, Van Schaik RH, Manolopoulos VG. Drogari E, et al. Pharmacogenomics. 2014 Dec;15(16):1963-72. doi: 10.2217/pgs.14.138. Pharmacogenomics. 2014. PMID: 25521355

6

Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward.

Mollaki V, Drogari E. Mollaki V, et al. Among authors: drogari e. J Clin Lipidol. 2016 Jul-Aug;10(4):748-756. doi: 10.1016/j.jacl.2016.02.020. Epub 2016 Mar 23. J Clin Lipidol. 2016. PMID: 27578104 Review.

7

Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families.

Mollaki V, Progias P, Drogari E. Mollaki V, et al. Among authors: drogari e. Ann Hum Genet. 2013 Sep;77(5):426-34. doi: 10.1111/ahg.12032. Epub 2013 Jul 2. Ann Hum Genet. 2013. PMID: 23815734

8

First on-line survey of an international multidisciplinary working group (MightyMedic) on current practice in diagnosis, therapy and follow-up of dyslipidemias.

Stefanutti C, D'Alessandri G, Petta A, Harada-Shiba M, Julius U, Soran H, Moriarty PM, Romeo S, Drogari E, Jaeger BR; MightyMedic (Multidisciplinary International Group for Hemapheresis TherapY and MEtabolic DIsturbances Contrast) Working Group. Stefanutti C, et al. Among authors: drogari e. Atheroscler Suppl. 2015 May;18:241-50. doi: 10.1016/j.atherosclerosissup.2015.02.036. Atheroscler Suppl. 2015. PMID: 25936332

9

Oral manifestations in glycogen storage disease type 1b.

Salapata Y, Laskaris G, Drogari E, Harokopos E, Messaritakis J. Salapata Y, et al. Among authors: drogari e. J Oral Pathol Med. 1995 Mar;24(3):136-9. doi: 10.1111/j.1600-0714.1995.tb01154.x. J Oral Pathol Med. 1995. PMID: 7776266

10

Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.

Mollaki V, Progias P, Drogari E. Mollaki V, et al. Among authors: drogari e. Atherosclerosis. 2014 Dec;237(2):798-804. doi: 10.1016/j.atherosclerosis.2014.09.031. Epub 2014 Oct 30. Atherosclerosis. 2014. PMID: 25463123

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