Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.
about
Diagnostic workup and management of patients with suspected Niemann-Pick type C diseaseNiemann-Pick disease type C symptomatology: an expert-based clinical descriptionRecent advances in the diagnosis and treatment of niemann-pick disease type C in children: a guide to early diagnosis for the general pediatricianThe hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.Facial Dystonia with Facial Grimacing and Vertical Gaze Palsy with "Round the Houses" Sign in a 29-Year-Old Woman.Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patientsObservational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective studyObservational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child.Disease and patient characteristics in NP-C patients: findings from an international disease registry.Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann-Pick Disease type C1.Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicatorsTwo Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea.A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening toolsIdentification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational studyVertical supranuclear gaze palsy in Niemann-Pick type C disease."Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.Niemann-Pick type C: focus on the adolescent/adult onset form.Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment.Niemann-Pick type C as a cause of progressive intellectual and neurological deterioration in childhood.The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran.Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C diseaseNiemann-Pick disease type C: introduction and main clinical featuresNiemann-Pick disease type C in the newborn period: a single-center experience.Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry.Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1.Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing.The extending spectrum of NPC1-related human disorders: from Niemann-Pick C1 Disease to obesity.Effects of miglustat on stabilization of neurological disorder in niemann-pick disease type C: Iranian pediatric case series.
P2860
Q26748586-8B508E8C-16ED-40BA-A5BC-6979EB090ABAQ26860273-B9F72FCD-DA6B-48E0-AE6C-1035743A1F97Q28082532-581E5423-73C7-4FB2-BE2D-FCF9BAEF44C9Q30235362-DC626D16-64BD-46C9-8EE0-36C0AD8BEEDBQ30594296-8F364AD8-1BBC-443E-B085-F7379049FA3CQ30829799-F4EE6F68-C501-4BDB-B7A8-CE96D9BA2C31Q33763605-C2AD4EB6-BE02-4E0F-83E3-F639E4BE789EQ34324083-FF7F8FBF-0AF1-41C0-B4CA-5D095E1C5635Q34620362-1BC3193C-8EBA-4A70-8E82-A062A2D5E034Q34640755-925D1379-50F4-4A89-8064-8E822CF8B772Q35868559-99C28FA6-9AF3-4227-B28C-47F274191EF9Q36109432-7F93D258-66D6-4235-9368-0302173F6E8FQ36415808-0392F55B-C1A1-4E3D-87CA-46F45EDF8FFEQ36572002-EE75468C-9A21-4A23-8530-B259CEF2DD61Q36599156-A35916BB-80EF-4F70-9FF0-4B46037C6AB9Q36831584-5F32A1D4-A058-4520-B334-351AB1C22B9FQ36989875-7B621AD0-CA37-456E-80D7-5F9520312178Q37119427-D50CAE17-0E48-48E2-BB52-102BE8948424Q37220691-674E7B70-00DE-49EF-9411-9195DC7012E8Q37224059-21289A53-EF8F-4C25-A26B-75F60519911FQ37284663-475F9D89-B47F-4BDD-B08B-8AA925672D9AQ37384927-E9EA1923-C6E1-43F9-951C-C74B59721EBAQ37469897-D3086F53-CA5D-4414-828D-D429AF985F62Q37658437-D6051B20-EB1C-4B1A-B9F7-7EBF477871A6Q38027335-11D34248-D573-4D11-AF78-51C8C6111630Q38110488-C57598DE-FB78-460C-B60C-89A0523DDB95Q38783095-CD71FEA5-E0A8-4F4B-B7DB-776DF780B7FBQ39236376-EE815D30-BA59-4EF7-96A7-F41A813A8D6DQ40176078-6D1A1EFA-6A00-4FB0-9217-A6177C106ED0Q41600670-93792E6D-2100-4183-AD89-10A28C36F572Q42751968-FA4AADB6-BD8D-4052-B9FC-F9488B4118B6Q42831912-8FCB1441-4D33-418F-AF09-ADD270F6ADEDQ47761092-F2607F56-A604-4B3C-9670-3D97D1354B00Q47980087-ADE8942F-86F5-479B-9933-C947452BC2D2Q48108586-C53D60F5-9AB9-4284-A390-EE6582D68338Q48901340-D55DD749-A8FD-4481-BC6C-F4318594A663Q49757755-512449FA-E8F5-4031-9C69-80A047FCBCA5Q49911128-C16A5309-68C4-450F-912C-1FDE95A943A9Q50084571-A213E2CF-ED7E-48BE-9B94-97147F47BDCAQ50358080-CA0556A9-54D1-4892-BAF5-565E8340E7BA
P2860
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.
@en
type
label
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.
@en
prefLabel
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.
@en
P2093
P50
P1433
P1476
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C
@en
P2093
P304
P356
10.1212/WNL.0B013E3182563B82
P407
P577
2012-04-18T00:00:00Z