Raquel Yahyaoui

Raquel Yahyaoui

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Raquel Yahyaoui

Raquel Yahyaoui

Publications by authors named "Raquel Yahyaoui"

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18Publications

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A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening.

J Inherit Metab Dis 2019 May 21;42(3):407-413. Epub 2019 Feb 21.

Centro Diagnóstico de Enfermedades Moleculares (CEDEM), Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, idiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1002/jimd.12063DOI Listing
May 2019

[Proposed guidelines in the neonatal screening for congenital hypothyroidism in large premature newborns].

An Pediatr (Barc) 2019 Feb 25. Epub 2019 Feb 25.

Instituto de Investigación Biomédica de Málaga (IBIMA), Málaga, España; Sección de Endocrinología Pediátrica, Hospital Regional Universitario de Málaga, Málaga, España.

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http://dx.doi.org/10.1016/j.anpedi.2019.01.021DOI Listing
February 2019

Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings.

J AAPOS 2018 Nov 13. Epub 2018 Nov 13.

Institute of Biomedical Research in Málaga (IBIMA), Málaga, Spain; Laboratory of Metabolic Disorders and Newborn Screening Centre of Eastern Andalusia, Málaga Regional University Hospital, Málaga, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2018.08.008DOI Listing
November 2018

Implications of the Mediterranean diet and physical exercise on the lipid profile of metabolically healthy obese women as measured by nuclear magnetic resonance spectroscopy (H NMR).

Chem Phys Lipids 2018 07 23;213:68-75. Epub 2018 Mar 23.

Institute of Biomedical Research in Malaga (IBIMA), Malaga, Spain; Internal Medicine Department, Regional University Hospital of Málaga (Carlos Haya Hospital), Spain; CIBER Fisiopatologia de la Obesidad y la Nutricion, Instituto de Salud Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1016/j.chemphyslip.2018.03.007DOI Listing
July 2018

Characterization of lipid profile by nuclear magnetic resonance spectroscopy (1H NMR) of metabolically healthy obese women after weight loss with Mediterranean diet and physical exercise.

Medicine (Baltimore) 2017 Jul;96(27):e7040

aDepartment of Clinical Analysis, Institute of Biomedical Research in Málaga (IBIMA), Regional University Hospital of Málaga (Carlos Haya Hospital), Universidad de Malaga bDepartment of Endocrinology and Nutrition, Institute of Biomedical Research in Málaga (IBIMA), Regional University Hospital of Málaga (Virgen de la Victoria Hospital) cDepartment of Internal Medicine, Institute of Biomedical Research in Málaga (IBIMA), Regional University Hospital of Málaga (Carlos Haya Hospital) dCIBERFisiopatología de la Obesidad y Nutrición, Instituto de Salud Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1097/MD.0000000000007040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502137PMC
July 2017

Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.

Clin Chim Acta 2015 Oct 11;450:342-8. Epub 2015 Sep 11.

Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Unit and Laboratories, Meyer Children's University Hospital, Florence, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2015.09.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577792PMC
October 2015

[C5-carnitine false positive results in newborn screening: what is the cause?].

Med Clin (Barc) 2015 Feb 2;144(4):181-2. Epub 2014 Jun 2.

Laboratorio de Bioquímica Genética, Genética Humana, Universidad de Liége, Liége, Bélgica.

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http://dx.doi.org/10.1016/j.medcli.2014.03.011DOI Listing
February 2015

Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia.

JIMD Rep 2014 11;16:89-94. Epub 2014 Jul 11.

Newborn Screening, Metabolism and Genetics Unit, Genetics Department, National Institute of Health Ricardo Jorge, Porto, Portugal,

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http://link.springer.com/10.1007/8904_2014_324
Publisher Site
http://dx.doi.org/10.1007/8904_2014_324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221301PMC
November 2014

Woman with virilizing congenital adrenal hyperplasia and Leydig cell tumor of the ovary.

Gynecol Endocrinol 2014 Aug 7;30(8):549-52. Epub 2014 Apr 7.

Endocrinology Department, Andalusian Gender Team, IBIMA, Carlos Haya Hospital , Malaga , Spain .

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http://dx.doi.org/10.3109/09513590.2014.907260DOI Listing
August 2014

High serum testosterone concentrations in a diabetic woman with end-stage renal disease.

Endocrinol Nutr 2013 Nov 25;60(9):e23-5. Epub 2013 Jul 25.

Unidad de Gestión Clínica de Endocrinología y Nutrición, Hospital Regional Universitario Carlos Haya, Málaga, España. Electronic address:

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http://dx.doi.org/10.1016/j.endonu.2013.01.004DOI Listing
November 2013

Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death.

Mol Genet Metab 2011 Nov 12;104(3):414-6. Epub 2011 May 12.

Clinical Laboratory, Carlos Haya University Hospital, Málaga, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2011.05.003DOI Listing
November 2011

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

Authors:
David M S McHugh Cynthia A Cameron Jose E Abdenur Mahera Abdulrahman Ona Adair Shahira Ahmed Al Nuaimi Henrik Åhlman Jennifer J Allen Italo Antonozzi Shaina Archer Sylvia Au Christiane Auray-Blais Mei Baker Fiona Bamforth Kinga Beckmann Gessi Bentz Pino Stanton L Berberich Robert Binard François Boemer Jim Bonham Nancy N Breen Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Rohit Cariappa Clover Carlisle Ubaldo Caruso Michela Cassanello Ane Miren Castilla Daisy E Castiñeiras Ramos Pranesh Chakraborty Ram Chandrasekar Alfredo Chardon Ramos David Cheillan Yin-Hsiu Chien Thomas A Childs Petr Chrastina Yuri Cleverthon Sica Jose Angel Cocho de Juan Maria Elena Colandre Veronica Cornejo Espinoza Gaetano Corso Robert Currier Denis Cyr Noemi Czuczy Oceania D'Apolito Tim Davis Monique G de Sain-Van der Velden Carmen Delgado Pecellin Iole Maria Di Gangi Cristina Maria Di Stefano Yannis Dotsikas Melanie Downing Stephen M Downs Bonifacio Dy Mark Dymerski Inmaculada Rueda Bert Elvers Roger Eaton Barbara M Eckerd Fatma El Mougy Sarah Eroh Mercedes Espada Catherine Evans Sandy Fawbush Kristel F Fijolek Lawrence Fisher Leifur Franzson Dianne M Frazier Luciana R C Garcia Maria Sierra García-Valdecasas Bermejo Dimitar Gavrilov Rosemarie Gerace Giuseppe Giordano Yolanda González Irazabal Lawrence C Greed Robert Grier Elyse Grycki Xuefan Gu Fizza Gulamali-Majid Arthur F Hagar Lianshu Han W Harry Hannon Christa Haslip Fayza Abdelhamid Hassan Miao He Amy Hietala Leslie Himstedt Gary L Hoffman William Hoffman Philis Hoggatt Patrick V Hopkins David M Hougaard Kerie Hughes Patricia R Hunt Wuh-Liang Hwu June Hynes Isabel Ibarra-González Cindy A Ingham Maria Ivanova Ward B Jacox Catharine John John P Johnson Jón J Jónsson Eszter Karg David Kasper Brenda Klopper Dimitris Katakouzinos Issam Khneisser Detlef Knoll Hirinori Kobayashi Ronald Koneski Viktor Kozich Rasoul Kouapei Dirk Kohlmueller Ivo Kremensky Giancarlo la Marca Marcia Lavochkin Soo-Youn Lee Denis C Lehotay Aida Lemes Joyce Lepage Barbara Lesko Barry Lewis Carol Lim Sharon Linard Martin Lindner Michele A Lloyd-Puryear Fred Lorey Yannis L Loukas Julie Luedtke Neil Maffitt J Fergall Magee Adrienne Manning Shawn Manos Sandrine Marie Sônia Marchezi Hadachi Gregg Marquardt Stephen J Martin Dietrich Matern Stephanie K Mayfield Gibson Philip Mayne Tonya D McCallister Mark McCann Julie McClure James J McGill Christine D McKeever Barbara McNeilly Mark A Morrissey Paraskevi Moutsatsou Eleanor A Mulcahy Dimitris Nikoloudis Bent Norgaard-Pedersen Devin Oglesbee Mariusz Oltarzewski Daniela Ombrone Jelili Ojodu Vagelis Papakonstantinou Sherly Pardo Reoyo Hyung-Doo Park Marzia Pasquali Elisabetta Pasquini Pallavi Patel Kenneth A Pass Colleen Peterson Rolf D Pettersen James J Pitt Sherry Poh Arnold Pollak Cory Porter Philip A Poston Ricky W Price Cecilia Queijo Jonessy Quesada Edward Randell Enzo Ranieri Kimiyo Raymond John E Reddic Alejandra Reuben Charla Ricciardi Piero Rinaldo Jeff D Rivera Alicia Roberts Hugo Rocha Geraldine Roche Cheryl Rochman Greenberg José María Egea Mellado María Jesús Juan-Fita Consuelo Ruiz Margherita Ruoppolo S Lane Rutledge Euijung Ryu Christine Saban Inderneel Sahai Maria Isabel Salazar García-Blanco Pedro Santiago-Borrero Andrea Schenone Roland Schoos Barb Schweitzer Patricia Scott Margretta R Seashore Mary A Seeterlin David E Sesser Darrin W Sevier Scott M Shone Graham Sinclair Victor A Skrinska Eleanor L Stanley Erin T Strovel April L Studinski Jones Sherlykutty Sunny Zoltan Takats Tijen Tanyalcin Francesca Teofoli J Robert Thompson Kathy Tomashitis Mouseline Torquado Domingos Jasmin Torres Rosario Torres Silvia Tortorelli Sandor Turi Kimberley Turner Nick Tzanakos Alf G Valiente Hillary Vallance Marcela Vela-Amieva Laura Vilarinho Ulrika von Döbeln Marie-Francoise Vincent B Chris Vorster Michael S Watson Dianne Webster Sheila Weiss Bridget Wilcken Veronica Wiley Sharon K Williams Sharon A Willis Michael Woontner Katherine Wright Raquel Yahyaoui Seiji Yamaguchi Melissa Yssel Wendy M Zakowicz

Genet Med 2011 Mar;13(3):230-54

Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31820d5e67DOI Listing
March 2011