Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles

Autor: Alice, Kuster, Jean-Baptiste, Arnoux, Magalie, Barth, Delphine, Lamireau, Nada, Houcinat, Cyril, Goizet, Bérénice, Doray, Stéphanie, Gobin, Manuel, Schiff, Aline, Cano, Daniel, Amsallem, Christine, Barnerias, Boris, Chaumette, Marion, Plaze, Abdelhamid, Slama, Christine, Ioos, Isabelle, Desguerre, Anne-Sophie, Lebre, Pascale, de Lonlay, Laurence, Christa, Jean-François, Benoist

Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2018, 41 (1), pp.129-139. ⟨10.1007/s10545-017-0079-6⟩

International audience; Background and aim To improve the diagnostic work‐up of patients with diverse neurological diseases, we have elaborated specific clinical and CSF neurotransmitter patterns. Methods Neurotransmitter determinations in CSF from

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faab4334f55b7a72313f95eb179239ec
https://pubmed.ncbi.nlm.nih.gov/28924877

Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients

Autor: Magalie Barth, S. Fournier-Favre, Sandrine Roche, M. A. Spitz, P. de Lonlay, Bénédicte Héron, Mathieu Milh, H. Testard, Sylvia Napuri, Christine Vianey-Saban, L. Lion-François, Laurence Christa, C. Corne, Agathe Roubertie, M. A. Nguyen

Publikováno v: JIMD Reports ISBN: 9783662541180

Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive inborn error of metabolism, affecting catecholamines and serotonin biosynthesis. Cardinal signs consist in psychomotor delay, hypotonia, oculogyric crises, dystonia, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd7bc958c10252489e05d0be66826e91
https://doi.org/10.1007/8904_2016_550

Response to 'Is the Reg3α (HIP/PAP) Protein Really an Obesogenic Factor?'

Autor: Véronique Secq, Giuseppe Montalto, Cecilia Mallmann, Belén López, Stéphane Garcia, Laurence Christa, Juan L. Iovanna, Daniel Closa, Nelson Dusetti, Meritxell Gironella

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fde6ba538280051b531ee6f5fa830ad9
http://hdl.handle.net/10261/124718

HIP/PAP, a C-type lectin overexpressed in hepatocellular carcinoma, binds the RIIα regulatory subunit of cAMP-dependent protein kinase and alters the cAMP-dependent protein kinase signalling

Autor: France Demaugre, Yannick Philippe, Sokavuth Sar, Bernard Pileire, Laurence Christa, Chantal Lasserre, Christian Brechot

Publikováno v: European Journal of Biochemistry. 271:3812-3820

HIP/PAP is a C-type lectin overexpressed in hepatocellular carcinoma (HCC). Pleiotropic biological activities have been ascribed to this protein, but little is known about the function of HIP/PAP in the liver. In this study, therefore, we searched fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2fd2f963fdf581f6c73edb1d45a20f2d
https://doi.org/10.1111/j.1432-1033.2004.04302.x

Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials

Autor: Pascale de Lonlay, Lena Damaj, Marie-Anne Maubert, N Bahi-Buisson, Sylvie Odent, Jean François Benoit, Fabienne Clot, Laurence Christa, Marylène Cadoudal, C Dubourg, Michel Mazzuca

Publikováno v: JIMD Reports ISBN: 9783662474525

Objective/context: We describe the second patient presenting the combination of two homoallelic homozygous nonsense mutations in two genes distant from 1.8 Mb in the chromosome 2p13-3, the methylmalonyl-CoA epimerase gene (MCEE) and the sepiapterin r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72d0e15fd9f5eb8061d909cbe9d5e439
https://pubmed.ncbi.nlm.nih.gov/25763508