about
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasisDysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustatNeurological aspects of human glycosylation disordersMitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b geneIn memoriam: Manuel Rodriguez Gomez, MD July 4, 1928 - January 21, 2006Response to immunotherapy in a 20-month-old boy with anti-NMDA receptor encephalitis.Proton magnetic resonance spectroscopy as a probe into the pathophysiology of autism spectrum disorders (ASD): a review.Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial.Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type CNeurology of inherited glycosylation disorders.Pompe disease diagnosis and management guideline.Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasmsA 19-month-old girl of South Indian parents presented to a general pediatric clinic for evaluation of global developmental regression.The US Network of Pediatric Multiple Sclerosis Centers: Development, Progress, and Next Steps.Case definition and classification of leukodystrophies and leukoencephalopathies.Disease specific therapies in leukodystrophies and leukoencephalopathies.A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathiesA riddle wrapped in a mystery: understanding Niemann-Pick disease, type C.Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study.Therapy of Niemann-Pick disease, type C.The pathophysiology and mechanisms of NP-C disease.Neurotransmitter abnormalities and response to supplementation in SPG11.Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylationCognitive impairment occurs in children and adolescents with multiple sclerosis: results from a United States network.Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.Epilepsy in children--when should we think neurometabolic disease?Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.Consensus statement on preventive and symptomatic care of leukodystrophy patients.Niemann-Pick disease, type C and Roscoe Brady.Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion.Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.Cerebellar leukoencephalopathy: most likely histiocytosis-related.An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C.Long-term miglustat therapy in children with Niemann-Pick disease type C.From stargazing chicks to seizing infants: thiamine deficiency redux.Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study.
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Marc C Patterson
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Marc C Patterson
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Marc C. Patterson
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Marc C. Patterson
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مارك سي. باترسون
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Marc C Patterson
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Marc C Patterson
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Marc C. Patterson
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Marc C. Patterson
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Marc Patterson
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Marc C Patterson
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Marc C Patterson
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Marc C. Patterson
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Marc C. Patterson
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مارك سي. باترسون
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0000-0002-1116-126X