Search Results - "Matmat K"

A multidimensional analysis of neuropsychiatric lupus: clinical, biological and imaging insights from systematic evidence.

Authors: Matmat K Jamann H Maazouzi A et al.

Source: Frontiers in immunology [Front Immunol] 2026 Mar 16; Vol. 17, pp. 1768131. Date of Electronic Publication: 2026 Mar 16 (Print Publication: 2026).

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

IFNγ-associated immune-metabolic remodeling is linked to serotonin-kynurenine imbalance and cortical vulnerability in lupus-prone mice.

Authors: Matmat K Guéant-Rodriguez RM Darcq E et al.

Source: Frontiers in immunology [Front Immunol] 2026 Mar 05; Vol. 17, pp. 1740039. Date of Electronic Publication: 2026 Mar 05 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

SIRT1 mediates brain metabolic and developmental consequences of methionine synthase deficiency in inborn errors of cobalamin metabolism.

Authors: Matmat K Hassan Z Pourié G et al.

Source: Cell reports. Medicine [Cell Rep Med] 2026 Mar 17; Vol. 7 (3), pp. 102643. Date of Electronic Publication: 2026 Feb 25.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101766894 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-3791 (Electronic) Linking ISSN: 26663791 NLM ISO Abbreviation: Cell Rep Med Subsets: MEDLINE

Novel insights into pathomechanisms of retinal neuronal degeneration and reactive gliosis in a murine model of GM1-gangliosidosis.

Authors: Jubran, Lorna Wannemacher, Rouven Ulianytska, Anastasiia et al.

Source: Scientific Reports. 8/13/2025, Vol. 15 Issue 1, p1-14. 14p.

Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability.

Authors: Wiedemann A Oussalah A Guéant Rodriguez RM et al.

Source: EBioMedicine [EBioMedicine] 2024 Jan; Vol. 99, pp. 104911. Date of Electronic Publication: 2024 Jan 01.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review.

Authors: Cui X Zhong Y Yin C

Source: Medicine [Medicine (Baltimore)] 2026 May 01; Vol. 105 (18), pp. e48340.

Publication Type: Journal Article; Case Reports; Review

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE

The Bioinorganic Chemistry of the First Row d-Block Metal Ions—An Introduction.

Authors: Marques, Helder M.¹ (AUTHOR)

Source: Inorganics. May2025, Vol. 13 Issue 5, p137. 115p.

A transgenic mice model of retinopathy of cblG-type inherited disorder of one-carbon metabolism highlights epigenome-wide alterations related to cone photoreceptor cells development and retinal metabolism.

Authors: Matmat, Karim Conart, Jean-Baptiste Graindorge, Paul-Henri et al.

Source: Clinical Epigenetics. 10/5/2023, Vol. 15 Issue 1, p1-17. 17p.

Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.

Authors: Matmat K Guéant-Rodriguez RM Oussalah A et al.

Source: Human genetics [Hum Genet] 2022 Jul; Vol. 141 (7), pp. 1239-1251. Date of Electronic Publication: 2021 Oct 15.

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping.

Authors: Guéant JL Feillet F

Source: Human genetics [Hum Genet] 2022 Jul; Vol. 141 (7), pp. 1235-1237.

Publication Type: Editorial; Comment

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.

Authors: Olivieri G Greco B Cairoli S et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12787. Date of Electronic Publication: 2024 Aug 17.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE