ReviewInternational journal of pediatrics2015
Recent advances in the diagnosis and treatment of niemann-pick disease type C in children: a guide to early diagnosis for the general pediatrician.
Review in International journal of pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
18 citing papers in PubMed, 38 citations in OpenAlex.
- Movement disorders associated with diarrhoea.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a RecurrentInternational journal of molecular sciences · 2025Article
- Endo-lysosomal dysfunction and neuronal-glial crosstalk in Niemann-Pick type C disease.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024Review
- Video-Oculography Assessment in Neurodegenerative Ataxias and Niemann Pick Type C.Noro psikiyatri arsivi · 2024Article
- The Antifungal Antibiotic Filipin as a Diagnostic Tool of Cholesterol Alterations in Lysosomal Storage Diseases and Neurodegenerative Disorders.Antibiotics (Basel, Switzerland) · 2023Review
- Eye Movement Disorders in Movement Disorders.Movement disorders clinical practice · 2022Review
- Niemann-Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene.BMC medical genomics · 2021Article
- Regulation of Na/K-ATPase expression by cholesterol: isoform specificity and the molecular mechanism.American journal of physiology. Cell physiology · 2020Article
- Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?Orphanet journal of rare diseases · 2019Review
- Tolerance of chronic HDACi treatment for neurological, visceral and lung Niemann-Pick Type C disease in mice.Scientific reports · 2018Article
- Niemann-Pick disease type C in the newborn period: a single-center experience.European journal of pediatrics · 2017Observational
- Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann-Pick type C disease: review of initial published cases.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2017Review
- Characterization of cholesterol homeostasis in sphingosine-1-phosphate lyase-deficient fibroblasts reveals a Niemann-Pick disease type C-like phenotype with enhanced lysosomal CaScientific reports · 2017Article
- 2-Hydroxypropyl-β-cyclodextrins and the Blood-Brain Barrier: Considerations for Niemann-Pick Disease Type C1.Current pharmaceutical design · 2017Review
- Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.American journal of medical genetics. Part A · 2016Article
- Neuroinflammatory paradigms in lysosomal storage diseases.Frontiers in neuroscience · 2015Review
- Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1.Journal of developmental and behavioral pediatrics : JDBPArticle
- Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease.Therapeutic advances in rare diseaseReview
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Niemann-Pick disease (NP-C) is a lysosomal storage disease in which impaired intracellular lipid transport leads to accumulation of cholesterol and glycosphingolipids in various neurovisceral tissues. It is an autosomal recessive disorder, caused by mutations in the NPC1 or NPC2 genes. The clinical spectrum is grouped by the age of onset and onset of neurological manifestation: pre/perinatal; early infantile; late infantile; and juvenile periods. The NP-C Suspicion Index (SI) screening tool was developed to identify suspected patients with this disease. It is especially good at recognizing the disease in patients older than four years of age. Biochemical tests involving genetic markers and Filipin staining of skin fibroblast are being employed to assist diagnosis. Therapy is mostly supportive and since 2009, the first specific therapy approved for use was Miglustat (Zavesca) aimed at stabilizing the rate of progression of neurological manifestation. The prognosis correlates with age at onset of neurological signs; patients with early onset form progress faster. The NP-C disease has heterogeneous neurovisceral manifestations. A SI is a screening tool that helps in diagnostic process. Filipin staining test is a specific biomarker diagnostic test. Miglustat is the first disease-specific therapy.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.