Lista de obras - Marc C. Patterson - Dominio Público Uruguay

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

artículo científico publicado en 2011

Angelman's syndrome: clinical and electroencephalographic findings.

artículo científico publicado en 1997

Broad screening test for sphingolipid-storage diseases.

artículo científico publicado en 1999

Case definition and classification of leukodystrophies and leukoencephalopathies

artículo científico publicado en 2015

Cerebellar leukoencephalopathy: most likely histiocytosis-related

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2002

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Consensus statement on preventive and symptomatic care of leukodystrophy patients

artículo científico

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

artículo científico publicado en 2013

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

artículo científico publicado en 1986

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

artículo científico

Disease specific therapies in leukodystrophies and leukoencephalopathies

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico

From stargazing chicks to seizing infants: thiamine deficiency redux

artículo científico publicado en 2009

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

artículo científico publicado en 2013

IGF system in children with congenital disorders of glycosylation.

artículo científico publicado en 2009

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

artículo científico publicado en 2003

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

artículo científico publicado en 2006

Inborn errors of metabolism for child neurology residents

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2011

Measuring to improve: a new rating scale for Batten disease

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2003

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

artículo científico publicado en 2013

Movers and shakers: diagnosing neurotransmitter diseases with CSF

scientific article published on 09 June 2010

Neurological aspects of human glycosylation disorders

artículo científico publicado en 2015

Neurology of inherited glycosylation disorders

artículo científico publicado en 2012

Neurotransmitter abnormalities and response to supplementation in SPG11.

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 1997

Niemann-Pick disease, type C and Roscoe Brady

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Pompe disease diagnosis and management guideline.

artículo científico publicado en 2006

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

artículo científico publicado en 2013

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

artículo científico publicado en 1997

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico

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

artículo científico publicado en 2009

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

artículo científico publicado el 2 de diciembre de 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 1998

Spiral analysis in Niemann-Pick disease type C.

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2009

The pathophysiology and mechanisms of NP-C disease.

artículo científico publicado en 2004

Therapy of Niemann-Pick disease, type C.

artículo científico publicado en 2004

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2000

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

artículo científico publicado en 2015

Lista de obras de Marc C. Patterson

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

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

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

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

Angelman's syndrome: clinical and electroencephalographic findings.

Broad screening test for sphingolipid-storage diseases.

Case definition and classification of leukodystrophies and leukoencephalopathies

Cerebellar leukoencephalopathy: most likely histiocytosis-related

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

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

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

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

Consensus statement on preventive and symptomatic care of leukodystrophy patients

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

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

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

Disease specific therapies in leukodystrophies and leukoencephalopathies

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

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

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

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

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

From stargazing chicks to seizing infants: thiamine deficiency redux

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

IGF system in children with congenital disorders of glycosylation.

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

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

Inborn errors of metabolism for child neurology residents

Jeavons Syndrome: Clinical Features and Response to Treatment

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

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

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

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

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

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

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

Measuring to improve: a new rating scale for Batten disease

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

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

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

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

Movers and shakers: diagnosing neurotransmitter diseases with CSF

Neurological aspects of human glycosylation disorders

Neurology of inherited glycosylation disorders

Neurotransmitter abnormalities and response to supplementation in SPG11.

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

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

Niemann-Pick disease, type C and Roscoe Brady

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

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

Pompe disease diagnosis and management guideline.

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

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

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

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

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

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

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

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

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

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

Spiral analysis in 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

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

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

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

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

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

The pathophysiology and mechanisms of NP-C disease.

Therapy of Niemann-Pick disease, type C.

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

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

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

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