Physician
Pediatrics
Dr. Maria J. Coll, MD
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Dr. Maria J. Coll practices Pediatrics. Maria J. Coll has written publications. He has 11 publications published with PubMed. The lastest publication is: 'Prognostic evaluation of patients with acute variceal bleeding.'
Publications
- Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.
- Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain.
- Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.
- Molecular analysis in two beta-mannosidosis patients: description of a new adult case.
- Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H m...
- Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.
- Down-regulation of genes related to the adrenergic system may contribute to splanchnic vasodilation in rat portal hypertension.
- Prognostic evaluation of patients with acute variceal bleeding.
- Physiopathology of splanchnic vasodilation in portal hypertension.
- Atrophy of mesenteric sympathetic innervation may contribute to splanchnic vasodilation in rat portal hypertension.
Doctors Specialties
- Pediatrics
Accepted Insurances
Education
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Universidad de Barcelona Faculty of Medicine
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