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Iscience
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June 8, 2026
Multi-omics reveal phosphatidic acid phosphatases modify Niemann-Pick type C disease severity
Andrew B Munkacsi, Gabriella E Conway, Keri Multerer, et al.
Orphanet Journal of Rare Diseases
|
April 8, 2018
Consensus clinical management guidelines for Niemann-Pick disease type C
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, et al.
Molecular Genetics and Metabolism
|
August 26, 2022
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
Barbara K Burton, Álvaro Hermida, Amaya Bélanger-Quintana, et al.
Current Medical Research and Opinion
|
March 10, 2017
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease
Christian J Hendriksz, Mathieu Anheim, Peter Bauer, et al.
Acta Neuropsychiatrica
|
April 28, 2023
Cerebrospinal fluid neurofilament light predicts longitudinal diagnostic change in patients with psychiatric and neurodegenerative disorders
Matthew J Y Kang, Dhamidhu Eratne, Hannah Dobson, et al.
Molecular Genetics and Metabolism
|
March 7, 2024
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
Itay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau, et al.
The Australian and New Zealand Journal of Psychiatry
|
July 21, 2023
Plasma neurofilament light in behavioural variant frontotemporal dementia compared to mood and psychotic disorders
Dhamidhu Eratne, Matthew Kang, Charles Malpas, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
October 6, 2024
Plasma and CSF neurofilament light chain distinguish neurodegenerative from primary psychiatric conditions in a clinical setting
Dhamidhu Eratne, Matthew J Y Kang, Courtney Lewis, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
July 29, 2022
Clinical impact of whole-genome sequencing in patients with early-onset dementia
Aamira J Huq, Bryony Thompson, Mark F Bennett, et al.
Journal of Inherited Metabolic Disease
|
April 26, 2026
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C
Tarekegn Hiwot, Forbes D Porter, Tatiana Bremova-Ertl, et al.
Page
of 22
Search research articles
Search
Showing results (201-210 of 213) with videos related to
Sort By:
Page
of 22
Iscience
|
June 8, 2026
Multi-omics reveal phosphatidic acid phosphatases modify Niemann-Pick type C disease severity
Andrew B Munkacsi, Gabriella E Conway, Keri Multerer, et al.
Orphanet Journal of Rare Diseases
|
April 8, 2018
Consensus clinical management guidelines for Niemann-Pick disease type C
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, et al.
Molecular Genetics and Metabolism
|
August 26, 2022
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
Barbara K Burton, Álvaro Hermida, Amaya Bélanger-Quintana, et al.
Current Medical Research and Opinion
|
March 10, 2017
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease
Christian J Hendriksz, Mathieu Anheim, Peter Bauer, et al.
Acta Neuropsychiatrica
|
April 28, 2023
Cerebrospinal fluid neurofilament light predicts longitudinal diagnostic change in patients with psychiatric and neurodegenerative disorders
Matthew J Y Kang, Dhamidhu Eratne, Hannah Dobson, et al.
Molecular Genetics and Metabolism
|
March 7, 2024
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
Itay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau, et al.
The Australian and New Zealand Journal of Psychiatry
|
July 21, 2023
Plasma neurofilament light in behavioural variant frontotemporal dementia compared to mood and psychotic disorders
Dhamidhu Eratne, Matthew Kang, Charles Malpas, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
October 6, 2024
Plasma and CSF neurofilament light chain distinguish neurodegenerative from primary psychiatric conditions in a clinical setting
Dhamidhu Eratne, Matthew J Y Kang, Courtney Lewis, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
July 29, 2022
Clinical impact of whole-genome sequencing in patients with early-onset dementia
Aamira J Huq, Bryony Thompson, Mark F Bennett, et al.
Journal of Inherited Metabolic Disease
|
April 26, 2026
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C
Tarekegn Hiwot, Forbes D Porter, Tatiana Bremova-Ertl, et al.
Page
of 22