Marzia Pasquali
Overview
Explore the profile of Marzia Pasquali including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
117
Citations
2130
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Mazzaferro S, Tartaglione L, Cohen-Solal M, Hoang Tran M, Pasquali M, Rotondi S, et al.
Clin Kidney J
. 2025 Mar;
18(Suppl 1):i15-i26.
PMID: 40083954
Uremic secondary hyperparathyroidism (SHP) refers to the biochemical abnormalities that characterize CKD-MBD. However, historically parathyroid hormone (PTH) is identified as the key culprit hormone and the essential biomarker of secondary...
2.
Longo N, Voss L, Frigeni M, Balakrishnan B, Pasquali M
Mol Genet Metab
. 2024 Oct;
143(3):108595.
PMID: 39418753
Cerebral creatine deficiency syndromes (CCDS) are rare inherited metabolic disorders caused by defective biosynthesis or transport of creatine. These conditions are characterized by reduced accumulation of creatine in the brain,...
3.
Nasseri Moghaddam Z, Reinhardt E, Thurm A, Potter B, Smith M, Graham C, et al.
medRxiv
. 2024 Oct;
PMID: 39371127
Creatine transporter (CTD) and guanidinoacetate methyltransferase (GAMT) deficiencies are rare inborn errors of creatine metabolism, resulting in cerebral creatine deficiency. Patients commonly exhibit intellectual and developmental disabilities, often accompanied by...
4.
Ingoglia F, Tanfous M, Ellezam B, Anderson K, Pasquali M, Botto L
Mol Genet Metab Rep
. 2024 Sep;
41:101142.
PMID: 39318848
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a primary mitochondrial dysfunction affecting mitochondrial fatty acid and protein metabolism, caused by biallelic pathogenic variants in ETFA, ETFB, or ETFDH genes. The heterogeneous...
5.
Cao J, Pasquali M, Jones P
J Appl Lab Med
. 2024 Mar;
9(4):820-832.
PMID: 38507619
Background: Inborn errors of metabolism comprise a set of more than 2000 known disorders which can result in significant morbidity and may be rapidly fatal. Diagnosing these disorders at birth...
6.
Prinzi J, Pasquali M, Hobert J, Palmquist R, Wong K, Francis S, et al.
Int J Neonatal Screen
. 2023 Nov;
9(4).
PMID: 37987477
Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the gene, encoding for the adrenoleukodystrophy protein (ALDP), leading to defective peroxisomal β-oxidation of very long-chain and branched-chain fatty acids (VLCFA). ALD...
7.
Adang L, Mowafy S, Herbst Z, Zhou Z, Schlotawa L, Radhakrishnan K, et al.
J Inherit Metab Dis
. 2023 Oct;
47(2):374-386.
PMID: 37870986
Sulfatases catalyze essential cellular reactions, including degradation of glycosaminoglycans (GAGs). All sulfatases are post-translationally activated by the formylglycine generating enzyme (FGE) which is deficient in multiple sulfatase deficiency (MSD), a...
8.
Flowers M, Dickson A, Miller M, Spector E, Enns G, Baudet H, et al.
Mol Genet Metab
. 2023 Aug;
140(3):107668.
PMID: 37549443
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is a relatively common inborn error of metabolism, but due to difficulty in accurately predicting affected status through newborn screening, molecular confirmation of...
9.
Rotondi S, Perrotta A, Pintus G, Capasso L, Pasquali M, Farcomeni A, et al.
Hemodial Int
. 2023 Jun;
27(4):370-377.
PMID: 37380376
Introduction: Vascular access recirculation during hemodialysis is associated with reduced effectiveness and worse survival outcomes. To evaluate recirculation, an increase in pCO in the blood of the arterial line during...
10.
Tartaglione L, Rotondi S, Aucella F, Bonomini M, Caruso M, Casino F, et al.
J Nephrol
. 2023 Jun;
36(7):1947-1955.
PMID: 37351832
Background: Severe secondary hyperparathyroidism (SHPT) is associated with mortality in end stage kidney disease (ESKD). Parathyroidectomy (PTX) becomes necessary when medical therapy fails, thus highlighting the interest to compare biochemical...