Cristiano Rizzo
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Explore the profile of Cristiano Rizzo including associated specialties, affiliations and a list of published articles.
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Articles
46
Citations
766
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Recent Articles
1.
Safarikia S, Cirelli R, Spagnoletti G, Martinelli D, Bravetti G, Francalanci P, et al.
J Inherit Metab Dis
. 2025 Mar;
48(2):e70010.
PMID: 40026238
The human liver plays a central metabolic role; however, its physiology may become imbalanced in inborn errors of metabolism (IEM), a broad category of monogenic disorders. Liver transplantation has been...
2.
Vecchio D, Macchiaiolo M, Gonfiantini M, Panfili F, Petrizzelli F, Liorni N, et al.
Front Genet
. 2024 Dec;
15:1477940.
PMID: 39722796
Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549)...
3.
Spreghini M, Gianni N, Todisco T, Rizzo C, Cappa M, Manco M
Nutrients
. 2024 Oct;
16(19).
PMID: 39408308
: Adrenoleukodystrophy (X-ALD) is a metabolic disorder caused by dysfunctional peroxisomal beta-oxidation of very-long-chain fatty acids (VLCFAs). A VLCFA-restricted Mediterranean diet has been proposed for patients and carriers to reduce...
4.
Sidorina A, Catesini G, Sacchetti E, Rizzo C, Dionisi-Vici C
Metabolites
. 2024 Aug;
14(8).
PMID: 39195524
Methylmalonic acidemia (MMA), propionic acidemia (PA), and cobalamin C deficiency (cblC) share a defect in propionic acid metabolism. In addition, cblC is also involved in the process of homocysteine remethylation....
5.
Cocciadiferro D, Mazza T, Vecchio D, Biagini T, Petrizzelli F, Agolini E, et al.
Front Genet
. 2024 Jan;
14:1307934.
PMID: 38239854
Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused by biallelic mutations...
6.
Manoli I, Gebremariam A, McCoy S, Pass A, Gagne J, Hall C, et al.
J Inherit Metab Dis
. 2023 May;
46(4):554-572.
PMID: 37243446
Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl-CoA mutase (MMUT) enzyme or the synthesis and transport of its cofactor,...
7.
Mehaney D, Seliem Z, Selim L, Khalil M, Abou-Youssef H, Elsayed E, et al.
Pediatr Int
. 2023 Jan;
65(1):e15469.
PMID: 36609685
Background: Organic acidurias are a group of inborn errors of metabolism. They present a significant diagnostic challenge and are associated with serious morbidity and mortality. They are considered the most...
8.
Semeraro D, Verrocchio S, Di Dalmazi G, Rossi C, Pieragostino D, Cicalini I, et al.
Int J Environ Res Public Health
. 2022 Jul;
19(13).
PMID: 35805799
Biotinidase deficiency (BD) is an autosomal recessive inherited disorder in which the enzyme biotinidase is totally or partially defective and the vitamin biotin is not recycled. BD meets the major...
9.
Hanna H, Rizzo C, Abdel Halim R, El Haddad H, Salam R, El-Sayed Abou-Youssef H
J Steroid Biochem Mol Biol
. 2021 May;
212:105922.
PMID: 34015387
Background: Hashimoto's thyroiditis (HT) is considered the predominant cause of hypothyroidism in iodine sufficient countries. The deficiency of 25-OH-vitamin D3 serum level and the variation of vitamin D receptor (VDR)...
10.
Mohn A, Polidori N, Aiello C, Rizzo C, Giannini C, Chiarelli F, et al.
Endocrinol Diabetes Metab Case Rep
. 2021 May;
2021.
PMID: 34013890
Summary: Adrenoleukodystrophy is a peroxisomal X-linked recessive disease caused by mutations in the ABCD1 gene, located on the X-chromosome (Xq28). Gene mutations in patient with adrenoleukodystrophy induce metabolic alterations characterized...