Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update (Q38008843)

26 August 2017

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update (English)

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Niemann-Pick disease, type C1

26 August 2017

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1 reference

Marc C Patterson

1

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Mark Walterfang

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Mark Walterfang

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author name string

Christian J Hendriksz

2

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26 August 2017

Frederic Sedel

4

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26 August 2017

Marie T Vanier

5

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26 August 2017

Frits Wijburg

6

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26 August 2017

NP-C Guidelines Working Group

7

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26 August 2017

8 May 2012

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Molecular Genetics and Metabolism

26 August 2017

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26 August 2017

106

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26 August 2017

3

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26 August 2017

330-344

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The frequency of lysosomal storage diseases in The Netherlands.

26 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Prevalence of lysosomal storage disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Prevalence of lysosomal storage diseases in Portugal

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick disease type C.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick disease type C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Identification of HE1 as the second gene of Niemann-Pick C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Complementation studies in Niemann-Pick disease type C indicate the existence of a second group

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The National Niemann-Pick C1 disease database: report of clinical features and health problems.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The natural history of Niemann-Pick disease type C in the UK.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick disease type C in adults

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The adult form of Niemann-Pick disease type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Therapy of Niemann-Pick disease, type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Critical role for glycosphingolipids in Niemann-Pick disease type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Long-term miglustat therapy in children with Niemann-Pick disease type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The clinical spectrum of fetal Niemann-Pick type C

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Patterned Purkinje cell degeneration in mouse models of Niemann-Pick type C disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Consequences of NPC1 and NPC2 loss of function in mammalian neurons

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Movement disorders and inborn errors of metabolism in adults: a diagnostic approach

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Adult onset Niemann-Pick disease type C presenting with psychosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Rhythmic cortical myoclonus in Niemann-Pick disease type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Consequence of dysphagia in the hospitalized patient: impact on prognosis and hospital resources

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Eye movement abnormalities as a sign for the diagnosis in Niemann-Pick disease type C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Cataplexy leading to the diagnosis of Niemann-Pick disease type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Gelastic cataplexy in Niemann-Pick disease group C and related variants without generalized sphingomyelinase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Cataplexy in variant forms of Niemann-Pick disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Audiologic profile in Niemann-Pick C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick type C disease associated with peripheral neuropathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The neuropsychiatry of Niemann-Pick type C disease in adulthood.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick disease type C1 presenting with psychosis in an adolescent male.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Presentation of Niemann-Pick type C disease with psychiatric disturbance in an adult

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Post-ictal psychosis in adolescent Niemann-Pick disease type C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick type C disease in a 68-year-old patient.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Bipolar Disorder and Niemann-Pick Disease Type C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-pick disease type C in neonatal cholestasis at a North American Center

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Clinical diagnosis of the adult form of Niemann-Pick type C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick disease type C: two cases and an update

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Ocular manifestations of Niemann-Pick disease type B.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick disease type B: An enzymatically confirmed case with unexpected retinal involvement (author's transl)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

An adult with a non-neuronopathic form of Niemann-Pick C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Nova Scotia Niemann-Pick disease (type D): clinical study of 20 cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Inter-rater reliability of the International Cooperative Ataxia Rating Scale (ICARS).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Development of a brief ataxia rating scale (BARS) based on a modified form of the ICARS.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Audiologic evaluation of infants and preschoolers: a practical approach

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The Neuropsychiatric Inventory: assessing psychopathology in dementia patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The value of the Mini-Mental State Examination in childhood: a preliminary study.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

A brief cognitive test battery to differentiate Alzheimer's disease and frontotemporal dementia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The FAB: a Frontal Assessment Battery at bedside.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Scoring reliability on the Wechsler Adult Intelligence Scale-Third Edition (WAIS-III)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The Denver developmental screening test

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Griffiths Scales of Mental Development and different users.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann–Pick diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The human chitotriosidase gene. Nature of inherited enzyme deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease — development and evaluation of a microprocedure

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Posttranslational regulation of acid sphingomyelinase in niemann-pick type C1 fibroblasts and free cholesterol-enriched chinese hamster ovary cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Improvement in lipid and protein trafficking in Niemann-Pick C1 cells by correction of a secondary enzyme defect

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Ultrastructural findings in skin from patients with Niemann-Pick disease, type C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Liver findings in Niemann-Pic disease type C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Recent advances in elucidating Niemann-Pick C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Secondary sea-blue histiocytosis derived from Niemann-Pick disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Prenatal diagnosis of Niemann-Pick diseases types A, B and C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Gastrointestinal disturbances and their management in miglustat-treated patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Inhibition of Glycosphingolipid Biosynthesis: Application to Lysosomal Storage Disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Dietary modifications in patients receiving miglustat.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Intensive immunosuppression in progressive multiple sclerosis. A randomized, three-arm study of high-dose intravenous cyclophosphamide, plasma exchange, and ACTH.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Size and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variables

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Diffusion tensor imaging in Niemann-Pick Type C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann-Pick Type C patient

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Niemann-Pick disease type C: unique 2-deoxy-2[¹⁸F] fluoro-D-glucose PET abnormality

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

In vivo quantification of brain injury in adult Niemann-Pick Disease Type C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe 'graft versus substrate' effect.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Development of a Rab9 transgenic mouse and its ability to increase the lifespan of a murine model of Niemann-Pick type C disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Unesterified cholesterol accumulation in late endosomes/lysosomes causes neurodegeneration and is prevented by driving cholesterol export from this compartment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Weekly cyclodextrin administration normalizes cholesterol metabolism in nearly every organ of the Niemann-Pick type C1 mouse and markedly prolongs life.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.012

10.1016/J.YMGME.2012.03.012

7 January 2021

Identifiers

DOI

1 reference

26 August 2017

1 reference