Man

Paulina Yaeko Mabe Santana

Neuropediatrician

Exequiel Gonzalez Cortes Children Hospital

Santiago, Chile

Líneas de Investigación


Clinical, pathophysiological, epidemiological and molecular aspects of the Inherited Metabolic Diseases.

Educación

  •  Pediatrics and Inherited Metabolic Diseases, JOHANNES GUTENBERG UNIVERSITAT MAINZ. Alemania, 1997
  •  Physician, PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE. Chile, 1988

Experiencia Académica

  •   Instructor Full Time

    UNIVERSIDAD DE CHILE

    Institute for Nutrition and Food Technology

    Santiago, Chile

    1999 - 2002

  •   Assistant Professor Full Time

    UNIVERSIDAD DE CHILE

    Institute for Nutrition and Food Technology

    Santiago, Chile

    2002 - 2005

  •   Assistant Professor Part Time

    UNIVERSIDAD DE CHILE

    Institute for Nutrition and Food Technology

    Santiago, Chile

    2005 - 2006

  •   Adjunct Professor Part Time

    UNIVERSIDAD DE SANTIAGO DE CHILE

    Medicine

    Santiago, Chile

    2010 - 2017

Experiencia Profesional

  •   Academic Full Time

    University of Chile

    Santiago, Chile

    1999 - 2004

  •   Academic Part Time

    University of Chile

    Santiago, Chile

    2004 - 2006

  •   Inherited Metabolic Diseases specialist. Neuropediatrician Part Time

    Dr. Exequiel Gonzalez Cortes Children Hospital

    Santiago, Chile

    2004 - At present

  •   Adjunct academic Part Time

    University of Santiago

    Santiago, Chile

    2010 - 2017

Premios y Distinciones

  •   Dr. Kottmeier Stiftung fellowship

    Dr. Kottmeier Stigtung

    Alemania, 1993

    Fellowship supported postgraduate medical formation and PhD in Germany

  •   Alexander von Humboldt fellowship

    ALEXANDER VON HUMBOLDT FOUNDATION

    Chile, 2000

    Fellowship supported postdoc in the Institute of Molecular Medicine, University of Freiburg, Germany


 

Article (14)

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
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B
Las enfermedades de depósito lisosomal: ¿Por qué los pacientes consultan al reumatólogo?
Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients
A clinical study of 77 patients with mucopolysaccharidosis type II
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI
Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests
Mucolipidoses type II. Case report
Phenylketonuria diagnosed during the neonatal period and breast feeding
Serum hexosaminidase and beta-glucuronidase activities in infants: effects of age and sex
1054. Cellular Therapy with below-Normal Levels of ASB Activity Reverses the Visceral Storage in Adults and Newborn MPS-VI Mice: Prospect for the Gene Therapy with In Vivo Selectable Vectors
Diagnosis and follow up of 23 children with organic acidurias
Chemical sympathectomy reveals pre-and postsynaptic effects of neuropeptide Y (NPY) in the cardiovascular system
Neuropeptide Y-induced pressor responses: Activation of a non-adrenergic mechanism, potentiation by reserpine and blockade by nifedipine

Abstract (3)

Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new cases
PHENOTYPICAL FEATURES OF A357D, THE MOST FREQUENT MUTATION AMONG NIEMANN-PICK TYPE B (NMPB) CHILEAN PATIENTS
Antisense oligonucleotide as mean to decrease the glycosaminoglycans synthesis in the mucopolysaccharidosis

Actualizacion (1)

LAS MUCOPOLISACARIDOSIS

BookSection (8)

Laboratorio en los errores innatos del metabolismo
Enfermedades metabólicas
Errores Innatos del Metabolismo
Las oligosacaridosis y las mucolipidosis
Nuevos tratamientos en los errores innatos del metabolismo
Leucodistrofia metacromática y leucodistrofia de células globoídeas
Alteración del metabolismo de los lípidos
Errores innatos del metabolismo de las enzimas lisosomales

Monograph (2)

Enfermedad de Gaucher en Chile (Gaucher's disease in Chile)
Enfermedades metabólicas que debutan como insuficiencia hepática aguda
28
Paulina Mabe

Neuropediatrician

Exequiel Gonzalez Cortes Children Hospital

Santiago, Chile

1
Juan Miquel

Full Professor

Gastroenterology

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, Chile

1
Silvana Zanlungo

Full Professor

Gastroenterology

Pontificia Universidad Católica de Chile

Santiago, Chile

1
Carol Moraga

Assistant professor

Instituto Ciencias de la Ingeniería

Universidad de O'Higgins

Rancagua, Chile

1
JOSE SANTOS

Full Professor

Department of Nutrition, Diabetes and Metabolism

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, Chile

1
Mauricio Gonzalez

Profesor Titular

INTA

UNIVERSIDAD DE CHILE - INSTITUTO DE NUTRICION Y TECNOLOGIA DE ALIMENTOS

Santiago, Chile

1
Rodrigo Gutierrez

Full Professor

Molecular Genetics & Microbiology

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

1
Mauricio Moraga

Profesor Asociado

Programa de Genética Humana

FACULTAD DE MEDICINA, UNIVERSIDAD DE CHILE

SANTIAGO, Chile