Related references
Note: Only part of the references are listed.A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
Mercedes Pineda et al.
BMC PEDIATRICS (2016)
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
Marie T. Vanier et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Towards a New Diagnostic Standard for Niemann-Pick C Disease
Xuntian Jiang et al.
EBIOMEDICINE (2016)
Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database
Jackie Imrie et al.
BMC NEUROLOGY (2015)
Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician
Hanna Alobaidy
INTERNATIONAL JOURNAL OF PEDIATRICS (2015)
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations
James E. Wraith et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Genetic and laboratory diagnostic approach in Niemann Pick disease type C
K. McKay Bounford et al.
JOURNAL OF NEUROLOGY (2014)
Diversity of disorders causing neonatal cholestasis - the experience of a tertiary pediatric center in Germany
Andre Hoerning et al.
FRONTIERS IN PEDIATRICS (2014)
Niemann-Pick disease type C symptomatology: an expert-based clinical description
Eugen Mengel et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Disease and patient characteristics in NP-C patients: findings from an international disease registry
Marc C. Patterson et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Prenatal-Onset Niemann-Pick Type C Disease with Nonimmune Hydrops Fetails
Ozge Surmeli-Onay et al.
PEDIATRICS AND NEONATOLOGY (2013)
Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update
Marc C. Patterson et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C
F. A. Wijburg et al.
NEUROLOGY (2012)
Different features of lung involvement in Niemann-Pick disease and Gaucher disease
Bora Gulhan et al.
RESPIRATORY MEDICINE (2012)
Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients
Marie T. Vanier et al.
CLINICAL GENETICS (2010)
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes
William S. Garver et al.
JOURNAL OF LIPID RESEARCH (2010)
Niemann-Pick disease type C
Marie T. Vanier
ORPHANET JOURNAL OF RARE DISEASES (2010)
The Clinical Spectrum of Fetal Niemann-Pick Type C
Ronen Spiegel et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Recommendations on the diagnosis and management of Niemann-Pick disease type C
James E. Wraith et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study
J. E. Wraith et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Lysosomal Storage Disorders in the Newborn
Orna Staretz-Chacham et al.
PEDIATRICS (2009)
Prenatal revelation of Niemann-Pick disease type C in siblings
Ruben Moreno et al.
ACTA PAEDIATRICA (2008)
Immune system irregularities in lysosomal storage disorders
Julian A. Castaneda et al.
ACTA NEUROPATHOLOGICA (2008)
Lung disease in Niemann-Pick disease
Nathalie Guillemot et al.
PEDIATRIC PULMONOLOGY (2007)
Niemann-Pick C disease:: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2
L. Verot et al.
CLINICAL GENETICS (2007)
The natural history of Niemann-Pick disease type C in the UK
J. Imrie et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Niemann-Pick C disease in Spain:: Clinical spectrum and development of a disability scale
C. Iturriaga et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2006)
The usefulness of bone marrow aspiration in the diagnosis of Niemann-Pick disease type C in infantile liver disease
A. F. Rodrigues et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2006)
Lung involvement in Niemann-Pick disease type C1:: improvement with bronchoalveolar lavage
S Palmeri et al.
NEUROLOGICAL SCIENCES (2005)
Niemann-Pick disease type C in neonatal cholestasis at a North American center
B Yerushalmi et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2002)
Niemann-Pick disease type C:: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
G Millat et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C
J Imrie et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2001)
Share Paper
