Late‐onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?

Autor: Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, Apolline Imbard, Lamisse Mansour‐Hendili, Alexandre Cesbron, Jean François Benoist, Manuel Schiff

Publikováno v: JIMD Reports, Vol 65, Iss 3, Pp 163-170 (2024)

Abstract Methionine synthase reductase deficiency (cblE) is a rare autosomal recessive inborn error of cobalamin metabolism caused by pathogenic variants in the methionine synthase reductase gene (MTRR). Patients usually exhibit early‐onset bone ma

Externí odkaz: https://doaj.org/article/75976a26610940dd92291d9485f6970b

Impact of T161, Y318 and S363 alanine mutations on regulation of the human delta-opioid receptor (hDOPr) induced by peptidic and alkaloid agonists

Autor: Quentin Dupas, Nicolas Elie, Stéphane Allouche, Elise Camacho, Géza Tóth, Christophe Rochais, Caroline Martel, Marie Nowoczyn, Nicolas Marie

Publikováno v: Neuropharmacology
Neuropharmacology, Elsevier, In press, 179, ⟨10.1016/j.neuropharm.2020.108286⟩

International audience; Previously, we showed a differential regulation of the human delta-opioid receptor (hDOPr) by etorphine and [D-Pen2, D-Pen5] enkephalin (DPDPE). To understand the molecular basis of such differences, we introduced 3 alanine mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::349d9bb203a7c38d49e4ade99646ff02
https://hal.archives-ouvertes.fr/hal-03021820

[Recommendations for aminoacids chromatography analysis]

Autor: Anne-Frédérique Dessein, Roselyne Garnotel, Laetitia Van Noolen, Marie Nowoczyn, Régine Minet-Quinard, Cécile Acquaviva-Bourdain, Marie-Hélène Read, Alice Veauville, Christelle Corne

Publikováno v: Annales de biologie clinique. 78(5)

Biochemical diagnosis of hereditary metabolic diseases requires the detection and simultaneous identification of a large number of compounds, hence the interest in metabolic profiles. Amino acid chromatography allows the identification and quantifica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41ad92579ddf2c2a302eccfff51e57c4
https://pubmed.ncbi.nlm.nih.gov/33026350

Thiamine and phosphate esters concentrations in whole blood and serum of patients with alcohol use disorder: a relation with cognitive deficits

Autor: François Vabret, Anne-Lise Pitel, Ludivine Ritz, Marie Nowoczyn, Hélène Beaunieux, Coralie Lannuzel, Céline Boudehent, Laurent Coulbault

Publikováno v: Nutritional Neuroscience
Nutritional Neuroscience, Maney Publishing, 2019, ⟨10.1080/1028415X.2019.1652438⟩

Background: In this study, we investigated (1) the effect of chronic and excessive alcohol consumption on whole blood (WB) and serum concentrations of thiamine and its metabolites after supplementa...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9df12f9c3bfcd55377f649969a0b07e
https://pubmed.ncbi.nlm.nih.gov/31419185

Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia

Autor: Nadia Coudray, Genevieve Abeguile, Mireille Castanet, Marie-Laure Kottler, Philippe Eckart, Arnaud Molin, Hervé Mittre, Nicolas Richard, Marie Nowoczyn, Celine Ballandone

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2018, 62 (11), pp.103577. ⟨10.1016/j.ejmg.2018.11.011⟩

International audience; Loss-of-function mutations in CYP24A1 (MIM 126065 20q13.2), the gene encoding the 24-hydroxylase responsible for 25-OH-D and 1,25-(OH)2D degradation, are identified in about 20% of patients presenting Idiopathic Infantile Hype

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64c7a9f2ffb10864fdffbb85c67534da
https://doi.org/10.1016/j.ejmg.2018.11.011