R Della Casa
Overview
Explore the profile of R Della Casa including associated specialties, affiliations and a list of published articles.
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Articles
27
Citations
125
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0
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Recent Articles
1.
Gragnaniello V, Fecarotta S, Pecoraro A, Tarallo A, Catzola A, Spadaro G, et al.
Neurol Sci
. 2019 Feb;
40(7):1453-1455.
PMID: 30778879
Pompe disease is a metabolic myopathy, due to deficiency of alpha glucosidase, with a wide clinical spectrum. Enzyme replacement therapy is the only available treatment to improve morbidity and mortality,...
2.
Fecarotta S, Gragnaniello V, Della Casa R, Romano A, Raiano E, Torella A, et al.
Neuromuscul Disord
. 2018 Aug;
28(11):956-960.
PMID: 30126629
Alpha-dystroglycanopathies are a group of progressive and untreatable neuromuscular disorders, due to aberrant alpha-dystroglycan glycosylation. We describe the effects of a short-term cycle of corticosteroid therapy in a 9-year-old boy,...
3.
Melis D, Pivonello R, Cozzolino M, Della Casa R, Balivo F, del Puente A, et al.
Horm Res Paediatr
. 2014 Jan;
81(1):55-62.
PMID: 24401800
Background: Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene...
4.
Mesolella M, Cimmino M, Cantone E, Marino A, Cozzolino M, Della Casa R, et al.
Acta Otorhinolaryngol Ital
. 2013 Sep;
33(4):267-72.
PMID: 24043915
Mucopolysaccharidoses (MPSs) are lysosomal storage disorders caused by deficiency of enzymes involved in the degradation of glycosaminoglycans (GAGs). These disorders are associated with the accumulation of GAGs in tissues with...
5.
Vitiello G, De Clemente V, Della Casa R, Romano A, Rosa M, Pascarella A, et al.
Minerva Pediatr
. 2012 Sep;
64(5):513-20.
PMID: 22992533
Aim: Our study aims at further defining the characteristics of epilepsy in Inherited Metabolic Disorders (IMDs). Methods: We reviewed the medical records of 345 patients with IMDs followed at the...
6.
Rosa M, Pascarella A, Parenti G, Buono S, Romano A, Della Casa R, et al.
Eur J Paediatr Neurol
. 2011 Aug;
16(2):203-5.
PMID: 21868270
Purpose: evaluate the psychomotor evolution of a child with Multiple acyl-CoA dehydrogenase deficiency after treatment with L-carnitine, ubiquinone and riboflavin. Methods: an assessment of psychomotor development was performed before the...
7.
Melis D, Della Casa R, Parini R, Rigoldi M, Cacciapuoti C, Marcolongo P, et al.
Eur J Pediatr
. 2008 Dec;
168(9):1069-74.
PMID: 19066956
Background: Neutropenia and/or neutrophil dysfunction are part of glycogen storage disease type 1b (GSD1b) phenotype. Recent studies indicated that activation of apoptosis and increased reactive oxygen species are implicated in...
8.
Melis D, Balivo F, Della Casa R, Romano A, Taurisano R, Capaldo B, et al.
J Inherit Metab Dis
. 2008 Apr;
31 Suppl 2:S227-31.
PMID: 18437526
Glycogen storage disease type Ib (GSD Ib, OMIM 232220) is an inborn disorder of glucose metabolism, caused by mutations in the G6PT gene, encoding a glucose 6-phosphate transporter (G6PT). GSD...
9.
Fecarotta S, Parenti G, Vajro P, Zuppaldi A, Della Casa R, Carbone M, et al.
J Inherit Metab Dis
. 2006 Apr;
29(1):186-9.
PMID: 16601889
We report a 3-year-old Italian patient with the hyperornithinaemia, hyperammonaemia, homocitrullinuria (HHH) syndrome who presented with neurological deterioration after an intercurrent infection. Hyperammonaemia, coagulopathy and moderate hypertransaminasaemia were detected on...
10.
Melis D, Parenti G, Gatti R, Della Casa R, Parini R, Riva E, et al.
Clin Endocrinol (Oxf)
. 2005 Jun;
63(1):19-25.
PMID: 15963056
Background: The efficacy of ACE-inhibitors in decreasing microalbuminuria and proteinuria has been reported in a few patients with glycogen storage disease type 1 (GSD1); however, no case-control study has ever...