Gerard Maruani
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Explore the profile of Gerard Maruani including associated specialties, affiliations and a list of published articles.
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23
Citations
340
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Recent Articles
1.
Michon-Colin A, Bouderlique E, Prie D, Maruani G, Nevoux J, Briot K, et al.
Calcif Tissue Int
. 2024 Jan;
114(3):310-314.
PMID: 38195892
X-linked hypophosphatemic rickets (XLH) is a genetic cause of renal hypophosphatemia due to inactivation of the PHEX gene, with an inappropriate concentration of fibroblast growth factor 23 (FGF23). Burosumab, an...
2.
Brazier F, Courbebaisse M, David A, Bergerat D, Leroy C, Lindner M, et al.
Sci Rep
. 2023 Jan;
13(1):85.
PMID: 36596813
Biallelic pathogenic variants in the SLC34A3 gene, encoding for the NPT2c cotransporter, cause Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH). However, the associated phenotype is highly variable. In addition, mice deleted...
3.
Bertocchio J, Grosset N, Groussin L, Kamenicky P, Larceneux F, Lienhardt-Roussie A, et al.
Endocr Connect
. 2021 Dec;
11(1).
PMID: 34939939
Context: Recent guidelines have provided recommendations for the care of patients with chronic hypoparathyroidism. Very little is known about actual physicians' practices or their adherence to such guidelines. Objective: To...
4.
Morice A, Joly A, Ricquebourg M, Maruani G, Durand E, Galmiche L, et al.
BMC Musculoskelet Disord
. 2020 Aug;
21(1):564.
PMID: 32825821
Background: Cherubism is a rare autosomal dominant genetic condition caused by mutations in the SH3BP2 gene. This disease is characterized by osteolysis of the jaws, with the bone replaced by...
5.
Piketty M, Brabant S, Souberbielle J, Maruani G, Audrain C, Rothenbuhler A, et al.
Clin Chem Lab Med
. 2020 Jul;
58(11):e267-e269.
PMID: 32653872
No abstract available.
6.
Cazenave M, Audard V, Bertocchio J, Habibi A, Baron S, Prot-Bertoye C, et al.
Clin J Am Soc Nephrol
. 2019 Dec;
15(1):16-24.
PMID: 31822527
Background And Objectives: Metabolic acidosis is a frequent manifestation of sickle cell disease but the mechanisms and determinants of this disorder are unknown. Our aim was to characterize urinary acidification...
7.
Bertocchio J, Tafflet M, Koumakis E, Maruani G, Vargas-Poussou R, Silve C, et al.
J Clin Endocrinol Metab
. 2018 May;
103(7):2534-2542.
PMID: 29727008
Context: Parathyroid-related hypercalcemia is due to primary hyperparathyroidism (PHPT) or to familial hypocalciuric hypercalcemia (FHH). PHPT can lead to complications that necessitate parathyroidectomy. FHH is a rare genetic disease resembling...
8.
Ladouceur M, Baron S, Nivet-Antoine V, Maruani G, Soulat G, Pereira H, et al.
Int J Cardiol
. 2018 Feb;
258:76-82.
PMID: 29433967
Background: Heart failure is a serious event in patients with transposition of the great arteries (D-TGA) after atrial redirection surgery. We aimed to determine the association between myocardial fibrosis and...
9.
Ogna V, Blanchard A, Vargas-Poussou R, Ogna A, Baron S, Bertocchio J, et al.
PLoS One
. 2017 May;
12(5):e0177329.
PMID: 28542241
Background And Objectives: Hypocitraturia has been associated with metabolic acidosis and mineral disorders. The aim of this study was to investigate the occurrence of urinary acidification defects underlying hypocitraturia. Materials...
10.
Souberbielle J, Benhamou C, Cortet B, Rousiere M, Roux C, Abitbol V, et al.
Geriatr Psychol Neuropsychiatr Vieil
. 2016 Nov;
14(4):377-382.
PMID: 27818369
The number of serum 25-hydroxyvitamin D (25OHD) assays has increased tenfold in France in less than 10 years, sometimes for invalidated reasons. In 2013, the French National Authority for Health...