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José Antonio Arranz

Autonomous University of Barcelona

44

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618

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Implementation of second-tier tests in newborn screening for the detection of vitamin B 12 related acquired and genetic disorders: results on 258,637 newborns.

2021 Orphanet Journal of Rare Diseases
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Leigh syndrome associated with TRMU gene mutations

2021 Molecular genetics and metabolism reports
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An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

2020 Molecular genetics and metabolism reports
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Maternal metabolic defects detected through expanded newborn screening in Catalonia

2019 Clinica Chimica Acta
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Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

2019 Orphanet Journal of Rare Diseases
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Impact of ornithine phenylacetate (OCR-002) in lowering plasma ammonia after upper gastrointestinal bleeding in cirrhotic patients

2016 Therapeutic Advances in Gastroenterology
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A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

2016 Mitochondrion
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Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease

2013 Journal of Inherited Metabolic Disease
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Safety of ornithine phenylacetate in cirrhotic decompensated patients: an open-label, dose-escalating, single-cohort study.

2013 Journal of Clinical Gastroenterology
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Hyperlactatemia and in Utero Exposure to Antiretrovirals: Is the Control Group the Clue?

2012 AIDS Research and Human Retroviruses
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