G. la Marca
University of Florence
18 Papers
78 Citations
G. la Marca is an academic researcher from University of Florence. The author has contributed to research in topics: Medicine & Newborn screening. The author has an hindex of 12, co-authored 18 publications. Previous affiliations of G. la Marca include Boston Children's Hospital.
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Papers
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.
Catia Cavicchi,Sabrina Malvagia,G. la Marca,Serena Gasperini,M.A. Donati,Enrico Zammarchi,Renzo Guerrini,Amelia Morrone,Elisabetta Pasquini +8 more
TL;DR: In an expanded newborn screening program for inborn errors of metabolism by LC-MS/MS in Tuscany, six newborns showed decreased blood citrulline levels, and molecular analysis of the OTC gene identified the known p.Trp265Leu mutation, which is correlated with late-onset ornithine transcarbamylase deficiency (OTCD).
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Optimization of the Chromatographic Determination of Polyphenols in the Aerial Parts of Cichorium intybus L
TL;DR: The chromatographic behaviour of the main components of the extract of the leaves has been compared on three different stationary phases-LiChrosorb RP18, Luna C18, and Luna Phenyl-Hexyl.
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Newborn screening for homocystinurias: recent recommendations versus current practice
R. Keller,R. Keller,Petr Chrastina,Marketa Pavlikova,Marketa Pavlikova,Sofía Gouveia,Antonia Ribes,Stefan Kölker,Henk J. Blom,Matthias R. Baumgartner,Matthias R. Baumgartner,Josef Bartl,C. Dionisi Vici,Florian Gleich,Andrew A. M. Morris,Viktor Kožich,Martina Huemer,Martina Huemer,Ivo Barić,Tawfeg Ben-Omran,Javier Blasco-Alonso,M. A. Bueno Delgado,Claudia Carducci,M. Cassanello,Roberto Cerone,María L. Couce,Ellen Crushell,C. Delgado Pecellin,Elena Dulín,Mercedes Espada,G. Ferino,Ralph Fingerhut,I. Garcia Jimenez,I. Gonzalez Gallego,Y. González-Irazabal,Gwendolyn Gramer,M. J. Juan Fita,Eszter Karg,Jeannette Klein,Vassiliki Konstantopoulou,G. la Marca,E. Leão Teles,Vincenzo Leuzzi,F. Lilliu,R. M. Lopez,Allan M. Lund,Philip Mayne,Silvia Meavilla,Stuart J. Moat,Jürgen G. Okun,Elisabetta Pasquini,C. Pedrón-Giner,Gábor Rácz,M. A. Ruiz Gomez,Laura Vilarinho,Raquel Yahyaoui,M. Zerjav Tansek,Rolf Zetterström,Rolf Zetterström,Maximilian Zeyda +59 more
TL;DR: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations, a comparison of published recommendations is assessed.
Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS.
G. la Marca,Sabrina Malvagia,Bruno Casetta,Elisabetta Pasquini,Ivana Pela,Michio Hirano,M.A. Donati,Enrico Zammarchi +7 more
TL;DR: A fast analytical method based on HPLC-ESI-MS/MS capable of identifying pyrimidine nucleotides (thymine, cytosine, uracil) and nucleosides (thymidine, citidine, uridine) in plasma and urine after direct dilution of the samples without pre-treatment is developed.
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Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
Lorenzo Ferri,Lorenzo Ferri,C Guido,C Guido,G. la Marca,Sabrina Malvagia,Catia Cavicchi,Agata Fiumara,Rita Barone,Rossella Parini,Daniela Antuzzi,Claudio Feliciani,Anna Zampetti,Raffaele Manna,Sabrina Giglio,C Della Valle,Xiaoyang Wu,Kenneth J. Valenzano,Elfrida R. Benjamin,Maria Alice Donati,Renzo Guerrini,Maurizio Genuardi,Amelia Morrone,Amelia Morrone +23 more
TL;DR: Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
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