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1998 1
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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
Cardiovascular manifestations in Marfan syndrome.
Lazea C, Bucerzan S, Crisan M, Al-Khzouz C, Miclea D, Şufană C, Cismaru G, Grigorescu-Sido P. Lazea C, et al. Among authors: miclea d. Med Pharm Rep. 2021 Aug;94(Suppl No 1):S25-S27. doi: 10.15386/mpr-2223. Epub 2021 Aug 10. Med Pharm Rep. 2021. PMID: 34527904 Free PMC article.
Early clinical signs in lysosomal diseases.
Alkhzouz C, Miclea D, Bucerzan S, Lazea C, Nascu I, Sido PG. Alkhzouz C, et al. Among authors: miclea d. Med Pharm Rep. 2021 Aug;94(Suppl No 1):S43-S46. doi: 10.15386/mpr-2228. Epub 2021 Aug 10. Med Pharm Rep. 2021. PMID: 34527909 Free PMC article.
46,XX DSD: Developmental, Clinical and Genetic Aspects.
Alkhzouz C, Bucerzan S, Miclaus M, Mirea AM, Miclea D. Alkhzouz C, et al. Among authors: miclea d. Diagnostics (Basel). 2021 Jul 30;11(8):1379. doi: 10.3390/diagnostics11081379. Diagnostics (Basel). 2021. PMID: 34441313 Free PMC article. Review.
Genetic testing in pediatric endocrine pathology.
Miclea D, Alkhzouz C, Bucerzan S, Grigorescu-Sido P. Miclea D, et al. Med Pharm Rep. 2021 Aug;94(Suppl No 1):S15-S18. doi: 10.15386/mpr-2220. Epub 2021 Aug 10. Med Pharm Rep. 2021. PMID: 34527901 Free PMC article.
Diagnostic, treatment and outcome possibilities in achondroplasia.
Bucerzan S, Alkhzouz C, Crisan M, Miclea D, Asavoaie C, Ilies R, Grigorescu-Sido P. Bucerzan S, et al. Among authors: miclea d. Med Pharm Rep. 2021 Aug;94(Suppl No 1):S22-S24. doi: 10.15386/mpr-2222. Epub 2021 Aug 10. Med Pharm Rep. 2021. PMID: 34527903 Free PMC article.
33 results