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Orphanet Journal of Rare Diseases
|
October 9, 2012
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat
Mark Walterfang, Yin-Hsiu Chien, Jackie Imrie, et al.
Journal of Inherited Metabolic Disease
|
April 3, 2016
Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest
Johannes Zschocke, Matthias R Baumgartner, Eva Morava, et al.
Orphanet Journal of Rare Diseases
|
April 27, 2020
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry
Marc C Patterson, Eugen Mengel, Marie T Vanier, et al.
Seizure
|
February 26, 2023
A case report of hemimegalencephaly with super-refractory status epilepticus and brain atrophy associated with NPRL3 gene mutation
Alejandra Vasquez, Kai J Miller, Paul E Youssef, et al.
Molecular Genetics and Metabolism
|
May 11, 2012
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update
Marc C Patterson, Christian J Hendriksz, Mark Walterfang, et al.
Pediatric Transplantation
|
January 22, 2013
Posterior reversible encephalopathy syndrome and hemorrhage associated with tacrolimus in a pediatric heart transplantation recipient
Robert W Loar, Marc C Patterson, Patrick W O'Leary, et al.
Orphanet Journal of Rare Diseases
|
May 29, 2015
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
Marc C Patterson, Eugen Mengel, Marie T Vanier, et al.
Molecular Genetics and Metabolism Reports
|
March 4, 2022
Hematopoietic cell transplantation for sialidosis type I
Ashish O Gupta, Marc C Patterson, Tim Wood, et al.
Journal of Child Neurology
|
March 23, 2004
Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease
Romana Kulikova-Schupak, Kelly G Knupp, Juan M Pascual, et al.
Journal of Child Neurology
|
January 30, 2013
Views of recently first-certified US child neurologists on their residency training
Donald L Gilbert, Marc C Patterson, John A Pugh, et al.
Page
of 12
Search research articles
Search
Showing results (41-50 of 115) with videos related to
Sort By:
Page
of 12
Orphanet Journal of Rare Diseases
|
October 9, 2012
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat
Mark Walterfang, Yin-Hsiu Chien, Jackie Imrie, et al.
Journal of Inherited Metabolic Disease
|
April 3, 2016
Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest
Johannes Zschocke, Matthias R Baumgartner, Eva Morava, et al.
Orphanet Journal of Rare Diseases
|
April 27, 2020
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry
Marc C Patterson, Eugen Mengel, Marie T Vanier, et al.
Seizure
|
February 26, 2023
A case report of hemimegalencephaly with super-refractory status epilepticus and brain atrophy associated with NPRL3 gene mutation
Alejandra Vasquez, Kai J Miller, Paul E Youssef, et al.
Molecular Genetics and Metabolism
|
May 11, 2012
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update
Marc C Patterson, Christian J Hendriksz, Mark Walterfang, et al.
Pediatric Transplantation
|
January 22, 2013
Posterior reversible encephalopathy syndrome and hemorrhage associated with tacrolimus in a pediatric heart transplantation recipient
Robert W Loar, Marc C Patterson, Patrick W O'Leary, et al.
Orphanet Journal of Rare Diseases
|
May 29, 2015
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
Marc C Patterson, Eugen Mengel, Marie T Vanier, et al.
Molecular Genetics and Metabolism Reports
|
March 4, 2022
Hematopoietic cell transplantation for sialidosis type I
Ashish O Gupta, Marc C Patterson, Tim Wood, et al.
Journal of Child Neurology
|
March 23, 2004
Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease
Romana Kulikova-Schupak, Kelly G Knupp, Juan M Pascual, et al.
Journal of Child Neurology
|
January 30, 2013
Views of recently first-certified US child neurologists on their residency training
Donald L Gilbert, Marc C Patterson, John A Pugh, et al.
Page
of 12