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Paulina Yaeko Mabe Santana

Neuropediatrician

Exequiel Gonzalez Cortes Children Hospital

Santiago, Chile

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

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

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

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 - A la fecha
Adjunct academic Part Time

University of Santiago

Santiago, Chile

2010 - 2017

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


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 Cassiman, D; Packman S.; Bembi B.; Turkia H.B.; Schiff, M; Imrie J.; Mabe, P; Takahashi, T.; Giugliani R. Article ISI SCOPUS MOLECULAR GENETICS AND METABOLISM (2016)
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B Acuña M.; Martinez, P; Moraga, C.; He, XX; Moraga M.Á.; Hunter B.; Nuernberg, P.; GONZALEZ, M; Schuchman EH; Mabe, P; et al. Article ISI SCOPUS EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Las enfermedades de depósito lisosomal: ¿Por qué los pacientes consultan al reumatólogo? Article Revista Chilena de Reumatología (2015)
Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients Brusius-Facchin, AC; Schwartz, IVD; Zimmer, C; Ribeiro, MG; Acosta, AX; Horovitz, D; Monlleo, IL; Fontes, MIB; Fett-Conte, A; Duarte, AR; et al. Article ISI MOLECULAR GENETICS AND METABOLISM (2014)
A clinical study of 77 patients with mucopolysaccharidosis type II Schwartz, IVD; Ribeiro, MG; Mota, JG; Toralles, MBP; Correia, P; Horovitz, D; Santos, ES; Monlleo, IL; Fett-Conte, AC; Oliveira, RP; et al. Article ISI ACTA PAEDIATRICA (2007)
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI Azevedo, ACMM; Schwartz, IV; Kalakun, L; Brustolin, S; Burin, MG; Beheregaray, APC; Leistner, S; Giugliani, C; Rosa M.; Barrios, P; et al. Article ISI SCOPUS CLINICAL GENETICS (2004)
Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests Mabe, P; Valiente A.; Soto, V.; Cornejo, V; Raimann E. Article ISI SCOPUS CLINICA CHIMICA ACTA (2004)
Mucolipidoses type II. Case report Aracena, M; Mabe, P; Mena M.; Andreani S.; Daza C Article ISI REVISTA MEDICA DE CHILE (2003)
Phenylketonuria diagnosed during the neonatal period and breast feeding Cornejo, V; Manriquez, V.; Colombo, M; Mabe, P; Jimenez, M; de la Parra A.; Valiente A.; Raimann E. Article ISI REVISTA MEDICA DE CHILE (2003)
Serum hexosaminidase and beta-glucuronidase activities in infants: effects of age and sex Mabe, P; Beck, M. Article ISI BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH (2003)
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 Article Molecular Therapy (2002)
Diagnosis and follow up of 23 children with organic acidurias Cornejo, V; Colombo, M; Durán G.; Mabe, P; Jimenez, M; de la Parra A.; Valiente A.; Raimann E. Article ISI REVISTA MEDICA DE CHILE (2002)
Chemical sympathectomy reveals pre-and postsynaptic effects of neuropeptide Y (NPY) in the cardiovascular system Tatemoto, K.; Huidobro-Toro, J. P. Article Cellular and Molecular Life Sciences (1987)
Neuropeptide Y-induced pressor responses: Activation of a non-adrenergic mechanism, potentiation by reserpine and blockade by nifedipine Mabe, Yaeko; Tatemoto, Kazuhiko; Pablo Huidobro-Toro, J. Article European Journal of Pharmacology (1985)


Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new cases Imrie J.; Mengel, KE; Cassiman, D; Mabe, P; Al-Sayed, M; Bembi B.; Giugliani R.; Packman S.; Schiff, M; Takahashi, T.; et al. Abstract ISI MOLECULAR GENETICS AND METABOLISM (2016)
PHENOTYPICAL FEATURES OF A357D, THE MOST FREQUENT MUTATION AMONG NIEMANN-PICK TYPE B (NMPB) CHILEAN PATIENTS Mabe, P; Hunter B.; Erazo R Abstract ISI MOLECULAR GENETICS AND METABOLISM (2009)
Antisense oligonucleotide as mean to decrease the glycosaminoglycans synthesis in the mucopolysaccharidosis Mabe, P; Fernandez, M.; Pérez, F; Sapag, A Abstract ISI PEDIATRIC RESEARCH (2004)


LAS MUCOPOLISACARIDOSIS Paulina Mabe S. Actualizacion SCIELO REVISTA CHILENA DE NUTRICION (2004)


Laboratorio en los errores innatos del metabolismo David, P.; Devilat, M.; Förster, J.; Díaz, M. BookSection (2012)
Enfermedades metabólicas BookSection (2008)
Errores Innatos del Metabolismo BookSection (2003)
Las oligosacaridosis y las mucolipidosis BookSection (2003)
Nuevos tratamientos en los errores innatos del metabolismo Raimann, E.; Mabe, P. BookSection (2003)
Leucodistrofia metacromática y leucodistrofia de células globoídeas Sanjurjo; P.; Baldellou; A. BookSection (2001)
Alteración del metabolismo de los lípidos Cornejo, V.; Raimann, E.; Mabe P; Colombo, M.; Cornejo, V.; Raimann, E BookSection (1999)
Errores innatos del metabolismo de las enzimas lisosomales Leistner, S.; Schwartz, I.; Matte, U.;, Giugliani, R.; Mabe, P.; Troncoso, L; Colombo, M.; Cornejo, V.; Raimann, E BookSection (1999)


Enfermedad de Gaucher en Chile (Gaucher's disease in Chile) Duran, G.; Mabe, P.; Genzyme Monograph (2000)
Enfermedades metabólicas que debutan como insuficiencia hepática aguda Monograph (2000)