Amaya Bélanger-Quintana

Instituto Ramón y Cajal de Investigación Sanitaria — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

26h-index2.8kcitations93works4.72yr avg
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Research Topics

Metabolism and Genetic Disorders(66), Diet and metabolism studies(35), Mitochondrial Function and Pathology(25), Folate and B Vitamins Research(14), Amino Acid Enzymes and Metabolism(9)

Publications93 total

Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease
Biomedicines·2025Open Access
Sepiapterin as a treatment for people living with phenylketonuria: a plain language summary of the APHENITY trial
Journal of Comparative Effectiveness Research·2025Open Access
Fish-eye disease. Altered HDL cholesterol metabolism and corneal involvement: A case report
Endocrinología Diabetes y Nutrición (English ed )·2025
Enfermedad del ojo de pez. Alteración del metabolismo HDL colesterol y afectación corneal: a propósito de un caso
Endocrinología Diabetes y Nutrición·2025
European guidelines on diagnosis and treatment of phenylketonuria: First revision
Molecular Genetics and Metabolism·2025· 29 citedOpen Access
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry
Nutrients·2025Open Access
Could the microbiota contribute to the symptomatology of Sanfilippo syndrome? A report in two affected siblings
Molecular Genetics and Metabolism·2025
Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairment
Brain Communications·2024· 2 citedOpen Access
Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial
The Lancet·2024· 24 cited
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity
Nutrients·2024· 1 citedOpen Access
The Role of the Gut Microbiota in Sanfilippo Syndrome’s Physiopathology: An Approach in Two Affected Siblings
International Journal of Molecular Sciences·2024· 1 citedOpen Access
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?
Nutrients·2024· 9 citedOpen Access
FRI-153 High prevalence of steatotic liver disease and systemic inflammation in hereditary fructose intolerance (HFI) patients independent of age, BMI and the presence of metabolic syndrome
Journal of Hepatology·2024
P.28 Blood phenylalanine control in patients with phenylketonuria in Europe: is it a changing landscape?
Molecular Genetics and Metabolism·2024
Management of phenylketonuria in European PKU centres remains heterogeneous
Molecular Genetics and Metabolism·2023· 9 cited
Correction: Vitamin C and folate status in hereditary fructose intolerance
European Journal of Clinical Nutrition·2023Open Access
Parent knowledge regarding food selection for children with PKU: Results of a survey in the United States
Nutrition·2023· 2 citedOpen Access
Successful pregnancy in a patient with multiple acyl-CoA dehydrogenase deficiency
Endocrinología Diabetes y Nutrición (English ed )·2023
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns
Journal of Pediatric Endocrinology and Metabolism·2022· 16 cited
Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol
Antioxidants·2022· 6 citedOpen Access
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Frequent Co-authors

Anita MacDonald(24), Júlio César Rocha(20), Kirsten Ahring(18), Katharina Dokoupil(14), François Feillet(13), Ania C. Muntau(11), Belén Pérez(10), Anna Maria Lammardo(10), Esther van Dam(10), M. van Rijn(9), Marianne Robert(9), Magdalena Ugarte(9), Consuelo Pedrón‐Giner(9), Isidro Vitoria(9), Annemiek M. J. van Wegberg(8), Hülya Gökmen-Özel(8), Manuela Almeida(8), Elena Martín‐Hernández(8), Sinziana Stanescu(8), Alberto Burlina(7)