Nueva variante asociada a enfermedad de Niemann-Pick tipo C: manifestaciones neurológicas y caracterización bioquímica, molecular y celular

Nueva variante asociada a enfermedad de Niemann-Pick tipo C: manifestaciones neurológicas y caracterización bioquímica, molecular y celular

Bibliographic Details
Main Authors:	L. López de Frutos, J. Romero-Imbroda, V. Rodríguez-Sureda, P. Giraldo
Format:	Article
Language:	Spanish
Published:	Elsevier España 2020-01-01
Series:	Neurología
Online Access:	http://www.sciencedirect.com/science/article/pii/S0213485317302530

Similar Items

New variant associated with Niemann-Pick disease type C: neurological manifestations and biochemical, molecular, and cellular characterisation
by: L. López de Frutos, et al.
Published: (2020-01-01)

Incontinencia pigmenti y manifestaciones neurológicas
by: Ernesto Portuondo Barbarrosa, et al.

Nueva mutación asociada con la enfermedad de Niemann-Pick en dos niños españoles: descripción del genotipo, actividad de la esfingomielinasa ácida, fenotipo y revisión
by: Pablo del Villar-Guerra, et al.
Published: (2021-05-01)

Patogenia de las manifestaciones neurológicas asociadas al SARS-CoV-2
by: Alexander Ariel Padrón González, et al.
Published: (2020-07-01)

Covid-19. Manifestaciones neurológicas
by: Javier García Zacarías, et al.
Published: (2020-04-01)

Manifestaciones neurológicas COVID-19.
by: Carlos Andres Clavijo-Prado, et al.
Published: (2020-08-01)

Enfermedad de Niemann Pick tipo-A. Presentación de 12 casos
by: Jorge Zarco-Román, et al.
Published: (2017-05-01)

Manifestaciones neurológicas del COVID-19
by: Sebastián Joaquín Ocampo Rojas
Published: (2020-05-01)

Síndrome de Moebius: manifestaciones neurológicas, musculoesqueléticas y del lenguaje
by: Johana Andrea Botero Hernández, et al.
Published: (2017-06-01)

Espectro de enfermedades neurológicas asociadas a anticuerpos anti-glutamato decarboxilasa (GAD)
by: Saiz Hinajeros, Albert
Published: (1998)

Risk Prediction for Niemann-Pick Disease
by: J Gordon Millichap
Published: (2012-06-01)

Niemann-Pick Disease Type C
by: J Gordon Millichap
Published: (1989-09-01)

Stem Cells in Niemann-Pick Disease
by: Sun-Jung Kim, et al.
Published: (2008-01-01)

Niemann-Pick disease type C
by: Vanier Marie T
Published: (2010-06-01)

Niemann-Pick type C disease
by: Patrizia Tarugi, et al.
Published: (2002-11-01)

Manifestaciones neurológicas como presentación inicial de la enfermedad relacionada con IgG4
by: J.M. Pastor Rueda, et al.
Published: (2020-05-01)

Manifestaciones clínicas asociadas al síndrome de TORCH
by: Isabel Ambou Frutos, et al.

Manifestaciones neurológicas de la infección COVID-19
by: Andres Ricaurte-Fajardo, et al.
Published: (2020-08-01)

Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease
by: Sandra Torres, et al.
Published: (2017-11-01)

Empleo del Reibergrama en manifestaciones neurológicas del dengue
by: Alexander Ariel Padrón-González, et al.
Published: (2017-09-01)

Difficult diagnosis. Niemann - Pick disease, type C
by: L. S. Namazova-baranova, et al.
Published: (2014-12-01)

A case of Niemann – Pick disease type C
by: Sergei Anatolyevich Klyushnikov, et al.
Published: (2013-12-01)

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder
by: Inusha Panigrahi, et al.
Published: (2019-01-01)

Niemann-Pick Disease Presented with Cystic Lung Involvement
by: Coşkun Doğan
Published: (2015-12-01)

Anesthetic consideration of Niemann-Pick Disease type C
by: Masoud Nashibi, et al.
Published: (2016-03-01)

Pulmonary involvement in Niemann-Pick type B disease
by: Alymlahi Elkhalil, et al.
Published: (2004-10-01)

Cholesterol metabolism in the Niemann-Pick Type C brain
by: Peake, Kyle
Published: (2011)

Clear Cell Chondrosarcoma in Association With Niemann-Pick Disease
by: K. N. Srikanth, et al.
Published: (2005-01-01)

Cell biology of Niemann-Pick type C disease
by: Lloyd-Evans, Emyr
Published: (2006)

Niemann-Pick Type C disease : pathogenesis and therapy
by: Colaço, Alexandria Nicole
Published: (2016)

Niemann-Pick disease type C with kidney involvement
by: Aanand A. Patel, et al.
Published: (2021-03-01)

Electroencefalograma y manifestaciones neurológicas en tiempos de COVID-19. ¿Por qué y cómo realizarlo?
by: Lilia María Morales Chacón
Published: (2020-12-01)

Doença de Niemann-Pick tipo C : caracterização bioquímica do fenótipo clássico e sua comparação com o fenótipo variante
by: Andrade, Carla Vieira
Published: (2012)

Doença de Niemann-Pick tipo C : caracterização bioquímica do fenótipo clássico e sua comparação com o fenótipo variante
by: Andrade, Carla Vieira
Published: (2012)

Doença de Niemann-Pick tipo C : caracterização bioquímica do fenótipo clássico e sua comparação com o fenótipo variante
by: Andrade, Carla Vieira
Published: (2012)

Caracterización de la expresión intratímica de antígenos involucrados en enfermedades neurológicas autoinmunitarias
by: Bruno, Roxana Elizabeth
Published: (2002)

Manifestaciones neurológicas en el adulto con premutación X frágil
by: J. Cabanyes-Truffino
Published: (2010-05-01)

Manifestaciones neurológicas de la infección por el virus zika
by: Joseph R. Zunt
Published: (2017-05-01)

Manifestaciones gastrointestinales de la enfermedad renal crónica
by: Mario Santacoloma Osorio, et al.
Published: (2017-01-01)

RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE
by: James E. Wraith, et al.
Published: (2010-02-01)

Cannot write session to /tmp/vufind_sessions/sess_c58ahp1aeiv53bcgie4gebjpbu