Parini R - Search Results

1

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B. Huemer M, et al. Among authors: parini r. J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30. J Inherit Metab Dis. 2016. PMID: 26025547 Free PMC article.

2

Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

Jones SA, Almássy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, Malm G, Ramaswami U, Tincheva R, Wraith JE; HOS Investigators. Jones SA, et al. J Inherit Metab Dis. 2009 Aug;32(4):534-43. doi: 10.1007/s10545-009-1119-7. Epub 2009 Jul 14. J Inherit Metab Dis. 2009. PMID: 19597960

3

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).

Hendriksz CJ, Giugliani R, Harmatz P, Lampe C, Martins AM, Pastores GM, Steiner RD, Leão Teles E, Valayannopoulos V; CSP Study Group. Hendriksz CJ, et al. J Inherit Metab Dis. 2013 Mar;36(2):373-84. doi: 10.1007/s10545-011-9410-9. Epub 2011 Nov 30. J Inherit Metab Dis. 2013. PMID: 22127392

4

Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.

Tylki-Szymańska A, De Meirleir L, Di Rocco M, Fathalla WM, Guffon N, Lampe C, Lund AM, Parini R, Wijburg FA, Zeman J, Scarpa M. Tylki-Szymańska A, et al. Among authors: parini r. Acta Paediatr. 2018 Aug;107(8):1402-1408. doi: 10.1111/apa.14417. Acta Paediatr. 2018. PMID: 29797470 Free PMC article.

5

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Harmatz PR, Lampe C, Parini R, Sharma R, Teles EL, Johnson J, Sivam D, Sisic Z. Harmatz PR, et al. Among authors: parini r. J Inherit Metab Dis. 2019 May;42(3):519-526. doi: 10.1002/jimd.12079. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30834539

6

Chronic liver involvement in urea cycle disorders.

Ranucci G, Rigoldi M, Cotugno G, Bernabei SM, Liguori A, Gasperini S, Goffredo BM, Martinelli D, Monti L, Francalanci P, Candusso M, Parini R, Dionisi-Vici C. Ranucci G, et al. Among authors: parini r. J Inherit Metab Dis. 2019 Nov;42(6):1118-1127. doi: 10.1002/jimd.12144. Epub 2019 Aug 25. J Inherit Metab Dis. 2019. PMID: 31260111

7

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F. Iacobazzi V, et al. Among authors: parini r. Hum Mutat. 2004 Oct;24(4):312-20. doi: 10.1002/humu.20085. Hum Mutat. 2004. PMID: 15365988

8

Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.

Giuffrè B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, Giuffrè M, Corsello G, Mosca F. Giuffrè B, et al. Among authors: parini r. J Inherit Metab Dis. 2004;27(5):609-19. doi: 10.1023/b:boli.0000042980.45692.bb. J Inherit Metab Dis. 2004. PMID: 15669676

9

First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period.

Häberle J, Vilaseca MA, Meli C, Rigoldi M, Jara F, Vecchio I, Capra C, Parini R. Häberle J, et al. Among authors: parini r. Eur J Obstet Gynecol Reprod Biol. 2010 Apr;149(2):228-9. doi: 10.1016/j.ejogrb.2009.11.014. Epub 2009 Dec 14. Eur J Obstet Gynecol Reprod Biol. 2010. PMID: 20005624 No abstract available.

10

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.

Bembi B, Pisa FE, Confalonieri M, Ciana G, Fiumara A, Parini R, Rigoldi M, Moglia A, Costa A, Carlucci A, Danesino C, Pittis MG, Dardis A, Ravaglia S. Bembi B, et al. Among authors: parini r. J Inherit Metab Dis. 2010 Dec;33(6):727-35. doi: 10.1007/s10545-010-9201-8. Epub 2010 Sep 14. J Inherit Metab Dis. 2010. PMID: 20838899 Clinical Trial.

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