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List of works by Nuria Carrillo-Carrasco

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency

scientific article published on 13 August 2015

A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid.

scientific article published on 12 April 2015

Adeno-Associated Virus Serotype 8 Gene Transfer Rescues a Neonatal Lethal Murine Model of Propionic Acidemia ⬇️

scientific article published on February 16, 2011

Bayesian model of disease progression in GNE myopathy

scientific article published on 03 December 2018

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease

scientific article

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

scientific article

Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.

scientific article

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. ⬇️

scientific article

GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges

scientific article published on 01 October 2018

GNE myopathy: current update and future therapy.

scientific article

GNE myopathy: new name and new mutation nomenclature

scientific article

Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.

scientific article

Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction

scientific article

Mutation update for GNE gene variants associated with GNE myopathy.

scientific article

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

scientific article published on 26 January 2016

Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease.

scientific article published on 07 February 2017

Quantification of lectin fluorescence in GNE myopathy muscle biopsies

scientific article published on 23 April 2018

Quantitative hydrophilic interaction chromatography-mass spectrometry analysis of N-acetylneuraminic acid and N-acetylmannosamine in human plasma

scientific article

Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.

scientific article

Skeletal muscle magnetic resonance biomarkers in GNE myopathy

scientific article published on 20 November 2020

Vector design influences hepatic genotoxicity after adeno-associated virus gene therapy.

scientific article

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