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Paulina Mabe

Showing results (1-10 of 12) with videos related to

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Clinica Chimica Acta; International Journal of Clinical Chemistry|June 15, 2004
Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot testsPaulina Mabe, Alf Valiente, Vivian Soto, et al.
Revista Medica De Chile|June 7, 2003
[Mucolipidoses type II. Case report]Mariana Aracena, Paulina Mabe, María Mena, et al.
Revista Medica De Chile|January 28, 2004
[Phenylketonuria diagnosed during the neonatal period and breast feeding]Verónica Cornejo, Viviana Manríquez, Marta Colombo, et al.
Revista Medica De Chile|June 5, 2002
[Diagnosis and follow up of 23 children with organic acidurias]Verónica Cornejo, Marta Colombo, Gloria Durán, et al.
Molecular Genetics and Metabolism|November 14, 2017
Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213]David Cassiman, Seymour Packman, Bruno Bembi, et al.
Molecular Genetics and Metabolism|May 21, 2016
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new casesDavid Cassiman, Seymour Packman, Bruno Bembi, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type BMariana Acuña, Pablo Martínez, Carol Moraga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 26, 2022
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year resultsMelissa Wasserstein, Robin Lachmann, Carla Hollak, et al.
Orphanet Journal of Rare Diseases|December 2, 2023
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trialMelissa P Wasserstein, Robin Lachmann, Carla Hollak, et al.
Journal of Inherited Metabolic Disease|April 28, 2026
Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final ResultsMelissa P Wasserstein, Carla E Hollak, Antonio Barbato, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Clinica Chimica Acta; International Journal of Clinical Chemistry|June 15, 2004
Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot testsPaulina Mabe, Alf Valiente, Vivian Soto, et al.
Revista Medica De Chile|June 7, 2003
[Mucolipidoses type II. Case report]Mariana Aracena, Paulina Mabe, María Mena, et al.
Revista Medica De Chile|January 28, 2004
[Phenylketonuria diagnosed during the neonatal period and breast feeding]Verónica Cornejo, Viviana Manríquez, Marta Colombo, et al.
Revista Medica De Chile|June 5, 2002
[Diagnosis and follow up of 23 children with organic acidurias]Verónica Cornejo, Marta Colombo, Gloria Durán, et al.
Molecular Genetics and Metabolism|November 14, 2017
Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213]David Cassiman, Seymour Packman, Bruno Bembi, et al.
Molecular Genetics and Metabolism|May 21, 2016
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new casesDavid Cassiman, Seymour Packman, Bruno Bembi, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type BMariana Acuña, Pablo Martínez, Carol Moraga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 26, 2022
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year resultsMelissa Wasserstein, Robin Lachmann, Carla Hollak, et al.
Orphanet Journal of Rare Diseases|December 2, 2023
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trialMelissa P Wasserstein, Robin Lachmann, Carla Hollak, et al.
Journal of Inherited Metabolic Disease|April 28, 2026
Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final ResultsMelissa P Wasserstein, Carla E Hollak, Antonio Barbato, et al.
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