Search filters

List of works by Marc C. Patterson

A 19-month-old girl of South Indian parents presented to a general pediatric clinic for evaluation of global developmental regression

scientific article

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

scientific article

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

scientific article published on November 2003

An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C.

scientific article published on 27 January 2011

Angelman's syndrome: clinical and electroencephalographic findings

scientific article published in April 1997

Broad screening test for sphingolipid-storage diseases

scientific article published in September 1999

Case definition and classification of leukodystrophies and leukoencephalopathies

scientific article

Cerebellar leukoencephalopathy: most likely histiocytosis-related

scientific article published on October 2008

Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome

scientific article published on 01 December 2009

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

scientific article published on July 2002

Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria

scientific article published on 08 March 2011

Cognitive impairment occurs in children and adolescents with multiple sclerosis: results from a United States network

scientific article published on 15 November 2012

Consensus statement on preventive and symptomatic care of leukodystrophy patients

scientific article published on 27 December 2014

Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry

scientific article published on 14 May 2013

Correlations between in vitro dissolution, in vivo bioavailability and hypoglycaemic effect of oral glibenclamide

scientific article published on 01 January 1986

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

scientific article published on 18 April 2012

Disease specific therapies in leukodystrophies and leukoencephalopathies

scientific article

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

scientific article

Editorial comment: Ataxia, ophthalmoplegia, and impairment of consciousness in a 19 month-old American boy

scientific article published on 17 June 2014

Editorial comment: Cerebellar ataxia, vertical supranuclear gaze palsy, sensorineural deafness, epilepsy, dementia and hallucinations in an adolescent male

scientific article published on 17 June 2014

Epidural hematoma in a patient on pegylated-L-asparginase therapy

scientific article published on 05 January 2014

Epilepsy in children--when should we think neurometabolic disease?

scientific article published on 28 February 2012

From stargazing chicks to seizing infants: thiamine deficiency redux

scientific article published on 5 August 2009

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

scientific article published on 16 June 2013

IGF system in children with congenital disorders of glycosylation.

scientific article published on 22 January 2009

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

scientific article published on October 2003

In memoriam: Manuel Rodriguez Gomez, MD July 4, 1928 - January 21, 2006

scientific article

Inborn errors of metabolism for child neurology residents

scientific article published in June 2011

Jeavons Syndrome: Clinical Features and Response to Treatment

scientific article published on 10 July 2018

Kinematic analysis of motor dysfunction in Niemann-Pick type C.

scientific article published on 27 February 2007

Limbic encephalitis associated with anti-GAD antibody and common variable immune deficiency

scientific article published on 3 February 2009

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

scientific article

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

scientific article published on 12 October 2009

Long-term outcome of symptomatic infantile spasms established by video-electroencephalography (EEG) monitoring

scientific article published in November 2008

Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: a large retrospective observational study

scientific article published on 23 April 2020

Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms

scientific article

Measuring to improve: a new rating scale for Batten disease

scientific article published on 19 October 2011

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

scientific article

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

scientific article published on 4 August 2009

Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene

scientific article (publication date: 15 May 2003)

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

scientific article published on April 2013

Movers and shakers: diagnosing neurotransmitter diseases with CSF

scientific article published on 09 June 2010

Neurological aspects of human glycosylation disorders

scientific article

Neurology of inherited glycosylation disorders

scientific article

Neurotransmitter abnormalities and response to supplementation in SPG11.

scientific article

Newborn screening for Krabbe disease: the New York State model.

scientific article published in April 2009

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

scientific article

Niemann-Pick disease, type C and Roscoe Brady

scientific article published on 29 November 2016

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.

scientific article published on 21 June 2013

Peer review fraud-it's not big and it's not clever

scientific article published on 11 December 2015

Pompe disease diagnosis and management guideline.

scientific article

Posterior reversible encephalopathy syndrome and hemorrhage associated with tacrolimus in a pediatric heart transplantation recipient

scientific article published on 17 January 2013

Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.

scientific article published in October 1997

Proton magnetic resonance spectroscopy as a probe into the pathophysiology of autism spectrum disorders (ASD): a review.

scientific article

Quo vadis: the re-definition of "inborn metabolic diseases"

scientific article published on 29 September 2015

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update ⬇️

scientific article published on 08 May 2012

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

scientific article published on 14 June 2009

Research challenges in central nervous system manifestations of inborn errors of metabolism ⬇️

scientific article published on December 2, 2010

Response to immunotherapy in a 20-month-old boy with anti-NMDA receptor encephalitis

scientific article

Scurvy and rickets masked by chronic neurologic illness: revisiting "psychologic malnutrition".

scientific article published in March 2007

Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion

scientific article published on October 1998

Spiral analysis in Niemann-Pick disease type C.

scientific article

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

scientific article published on 28 May 2015

Subclinical seizures in children diagnosed with localization-related epilepsy: clinical and EEG characteristics

scientific article published on 25 July 2009

Teaching neuroimages: call it as you see it: evolution of bilateral striatal necrosis

scientific article published in May 2012

The US Network of Pediatric Multiple Sclerosis Centers: Development, Progress, and Next Steps

scientific article

The frequency of non-epileptic spells in children: results of video-EEG monitoring in a tertiary care center

scientific article published in May 2008

The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York

scientific article

The pathophysiology and mechanisms of NP-C disease.

scientific article published in October 2004

Therapy of Niemann-Pick disease, type C.

scientific article published in October 2004

Too Old for a Diaper! A Child With Diaper Changing-Induced Seizures

scientific article published on 21 September 2015

Views of recently first-certified US child neurologists on their residency training

scientific article published on 28 January 2013

Violent recurrent ballism associated with infections in two children with static encephalopathy

scientific article published in May 2000

Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.

scientific article

Paulina is supported by:

About Paulina

Help