Maria Estela Rubio-Gozalbo

基本信息

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职业迁徙

个人简介

Pediatrician metabolic diseases and senior researcher Lead Galactosemia Network (GalNet) Coordinator galactosemias registry

研究兴趣

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Reshaping the Treatment Landscape of a Galactose Metabolism Disorder

M Estela Rubio-Gozalbo,E Naomi Vos,Isabel Rivera,Kent Lai,Gerard T Berry

Journal of inherited metabolic diseaseno. 2 (2025): e70013-e70013

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Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities

Amee M. Buziau, Dirk J. Lefeber, D. Cassiman,M. Estela Rubio-Gozalbo, Hanneke Kwast,Dean R. Tolan,Casper G. Schalkwijk,Martijn C. G. J. Brouwers

JOURNAL OF INHERITED METABOLIC DISEASEno. 1 (2025)

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Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability

Abigail Veldman,Birgit Sikkema-Raddatz,Terry G J Derks,Clara D M van Karnebeek,M B Gea Kiewiet, Margaretha F Mulder,Marcel R Nelen,M Estela Rubio-Gozalbo,Richard J Sinke,Monique G de Sain-van der Velden,Gepke Visser,Maaike C de Vries,Dineke Westra,Monique Williams,Ron A Wevers,M Rebecca Heiner-Fokkema,Francjan J van Spronsen

International journal of neonatal screeningno. 1 (2024)

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Impact of Theta Transcranial Alternating Current Stimulation on Language Production in Adult Classic Galactosemia Patients

Britt Derks, Varsha Shashi Kumar, Sai Yadnik,Bianca Panis,Annet M. Bosch,David Cassiman,Mirian C. H. Janssen,Teresa Schuhmann,M. Estela Rubio-Gozalbo,Bernadette M. Jansma

Journal of Inherited Metabolic Disease（2024）

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The Treatment of Biochemical Genetic Diseases: from Substrate Reduction to Nucleic Acid Therapies

E. Naomi Vos,Didem Demirbas, Matthew Mangel,M. Estela Rubio Gozalbo,Harvey L. Levy,Gerard T. Berry

MOLECULAR GENETICS AND METABOLISMno. 3 (2023)

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A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

Abigail Veldman,M. B. Gea Kiewiet,Dineke Westra,Annet M. Bosch,Marion M. G. Brands, Rene I. F. M. de Coo,Terry G. J. Derks,Sabine A. Fuchs,Johanna. M. P. van den Hout,Hidde H. Huidekoper,Leo A. J. Kluijtmans,Klaas Koop,Charlotte M. A. Lubout, Margaretha F. Mulder,Bianca Panis,M. Estela Rubio-Gozalbo, Monique G. de van der Velden, Jaqueline Schaefers,Andrea B. Schreuder,Gepke Visser,Ron A. Wevers,Frits A. Wijburg,M. Rebecca Heiner-Fokkema,Francjan J. van Spronsen

INTERNATIONAL JOURNAL OF NEONATAL SCREENINGno. 4 (2023)

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Development of Tools to Facilitate the Diagnosis of Hereditary Fructose Intolerance

Bianca Panis,Lise E. F. Janssen,Dirk J. Lefeber,Nynke Simons,M. Estela Rubio-Gozalbo,Martijn C. G. J. Brouwers

JIMD REPORTS（2023）

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The Challenges of Classical Galactosemia: HRQoL in Pediatric and Adult Patients

Merel E. Hermans,Hedy A. van Oers,Gert J. Geurtsen,Lotte Haverman,Carla E. M. Hollak,M. Estela Rubio-Gozalbo,Annet M. Bosch

ORPHANET JOURNAL OF RARE DISEASESno. 1 (2023)

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