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Marc C Patterson

Showing results (61-70 of 115) with videos related to

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Orphanet Journal of Rare Diseases|January 23, 2019
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?María-Jesús Sobrido, Peter Bauer, Tom de Koning, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2009
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 YorkPatricia K Duffner, Verne S Caviness, Richard W Erbe, et al.
Orphanet Journal of Rare Diseases|February 13, 2021
Validation of the 5-domain Niemann-Pick type C Clinical Severity ScaleMarc C Patterson, Lucy Lloyd-Price, Christina Guldberg, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 13, 2009
Spiral analysis in Niemann-Pick disease type CAnnie W Hsu, Panida A Piboolnurak, Alicia G Floyd, et al.
The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry|September 16, 2017
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC RegistryOlivier Bonnot, Clarissa S Gama, Eugen Mengel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2023
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directionsKarthik Muthusamy, Judit M Perez-Ortiz, Anna N Ligezka, et al.
Seizure|May 6, 2008
The frequency of non-epileptic spells in children: results of video-EEG monitoring in a tertiary care centerMaria A Montenegro, Douglas Sproule, Arthur Mandel, et al.
Orphanet Journal of Rare Diseases|February 26, 2021
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history studyPeter Witters, Andrew C Edmondson, Christina Lam, et al.
Journal of Child Neurology|January 29, 2011
An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type CHelly R Goez, Francois D Jacob, Robert D Fealey, et al.
Pediatric Neurology|January 8, 2016
Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental DelayDerek L Weyhrauch, Dan Ye, Nicole J Boczek, et al.
Pageof 12

Showing results (61-70 of 115) with videos related to

Sort By:
Pageof 12
Orphanet Journal of Rare Diseases|January 23, 2019
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?María-Jesús Sobrido, Peter Bauer, Tom de Koning, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2009
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 YorkPatricia K Duffner, Verne S Caviness, Richard W Erbe, et al.
Orphanet Journal of Rare Diseases|February 13, 2021
Validation of the 5-domain Niemann-Pick type C Clinical Severity ScaleMarc C Patterson, Lucy Lloyd-Price, Christina Guldberg, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 13, 2009
Spiral analysis in Niemann-Pick disease type CAnnie W Hsu, Panida A Piboolnurak, Alicia G Floyd, et al.
The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry|September 16, 2017
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC RegistryOlivier Bonnot, Clarissa S Gama, Eugen Mengel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2023
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directionsKarthik Muthusamy, Judit M Perez-Ortiz, Anna N Ligezka, et al.
Seizure|May 6, 2008
The frequency of non-epileptic spells in children: results of video-EEG monitoring in a tertiary care centerMaria A Montenegro, Douglas Sproule, Arthur Mandel, et al.
Orphanet Journal of Rare Diseases|February 26, 2021
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history studyPeter Witters, Andrew C Edmondson, Christina Lam, et al.
Journal of Child Neurology|January 29, 2011
An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type CHelly R Goez, Francois D Jacob, Robert D Fealey, et al.
Pediatric Neurology|January 8, 2016
Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental DelayDerek L Weyhrauch, Dan Ye, Nicole J Boczek, et al.
Pageof 12