Copertina

Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development

Fuente: Wiley Open Access

Salvato in:

Dettagli Bibliografici
Autori principali:	Aura Cecilia Jimenez‐Moreno, Alasdair Blain, Cathy Anne Pinto, Vikas Soekhai, Jennifer Viberg Johansson, Christine Dyer, Kate Adcock, Esther W. de Bekker‐Grob, G. Ardine de Wit, Jane Newman, Gráinne S. Gorman
Natura:	Artículo Open Access
Pubblicazione:	Wiley 2026
Soggetti:	JIMD Reports
Accesso online:	Acceder al recurso
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!

Documenti analoghi

5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings
di: Lelde Liepina, et al.
Pubblicazione: (2024)

Calculation of continuous reference intervals for biological parameters exhibiting strong age‐dependent level changes: Its application to glycosaminoglycans and sialic acid in urine
di: Carlos Emilio Rodríguez, et al.
Pubblicazione: (2024)

Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
di: Rory J. Tinker, et al.
Pubblicazione: (2026)

Screening and surveillance of hepatocellular carcinoma by serum des‐gamma‐carboxy prothrombin in patients with glycogen storage disease type Ia
di: A. B. Schreuder, et al.
Pubblicazione: (2024)

Enhanced differentiation between 3‐hydroxyglutaric and 2‐hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1
di: Denis Cyr, et al.
Pubblicazione: (2024)

Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management
di: A. Terrell, et al.
Pubblicazione: (2025)

An atypical presentation in a child with propionic acidemia? Better think twice!
di: Tim Burkhardt, et al.
Pubblicazione: (2025)

Issue Information
Pubblicazione: (2024)

A Mild Juvenile Onset Canavan Disease With Atypical Clinical Presentation and MRI Brain Features
di: Preeya Rehsi, et al.
Pubblicazione: (2025)

Expanding the genetic and clinical spectrum of SLC25A42‐associated disorders and testing of pantothenic acid to improve CoA level in vitro
di: Katharina Heckmann, et al.
Pubblicazione: (2024)

Specific GAG ratios in the diagnosis of mucopolysaccharidoses
di: Déborah Mathis, et al.
Pubblicazione: (2024)

Riboflavin transporter deficiency in young adults unmasked by dietary changes
di: Bregje Jaeger, et al.
Pubblicazione: (2024)

Issue Information
Pubblicazione: (2024)

2‐[18F] FDG PET/CT in Rapid Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency: A Case Report
di: Astrid Høj, et al.
Pubblicazione: (2025)

Factors associated with poor outcomes in patients with maple syrup urine disease in a tertiary government hospital: A retrospective cohort study
di: Christine Mae S. Avila, et al.
Pubblicazione: (2024)

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
di: Jayesh Sheth, et al.
Pubblicazione: (2024)

Identification of Additional Cases of Severe Neonatal GABA ‐Transaminase Deficiency
di: Deima Alammary, et al.
Pubblicazione: (2026)

Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis
di: Jennifer L. Cohen, et al.
Pubblicazione: (2026)

Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review
di: Clara Sherlock, et al.
Pubblicazione: (2025)

Glycine N‐Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the GLYAT: A Novel Inborn Error of Metabolism
di: Mona Nourbakhsh, et al.
Pubblicazione: (2025)

Computational structural genomics and clinical evidence suggest BCKDK gain‐of‐function may cause a potentially asymptomatic maple syrup urine disease phenotype
di: Emily Singh, et al.
Pubblicazione: (2024)

Long‐Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III Trial
di: Yoko Nakajima, et al.
Pubblicazione: (2026)

Efficacy of Switching Therapy From Alglucosidase Alfa to Avalglucosidase Alfa on Respiratory Function in Participants With Late‐Onset Pompe Disease: A Post Hoc Analysis From the COMET Trial
di: Priya S. Kishnani, et al.
Pubblicazione: (2025)

The phenotypic spectrum of PTCD3 deficiency
di: Baiba Lace, et al.
Pubblicazione: (2024)

Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders
di: Eline C. B. Eskes, et al.
Pubblicazione: (2024)

Epilepsy Phenotype and EEG Finding of Rhythmic High‐Amplitude Delta With Superimposed Spikes ( RHADS ) in Succinate Dehydrogenase Deficiency
di: Aaron B. Bowen, et al.
Pubblicazione: (2026)

Successful Management of Two Consecutive Pregnancies With Maternal–Fetal Phenylketonuria: Lessons From Clinical Practice
di: Per Lundkvist, et al.
Pubblicazione: (2025)

Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report
di: Jeremy Clark, et al.
Pubblicazione: (2025)

Late‐onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?
di: Alexandre Nguyen, et al.
Pubblicazione: (2024)

Atypical Presentation of IARS1‐Related Disorder: Expanding the Phenotype and Genotype
di: Parith Wongkittichote, et al.
Pubblicazione: (2025)

Nutrition With Skimmed Breast Milk in an Infant With Long Chain 3‐Hydroxyacyl‐coA Dehydrogenase Deficiency
di: Clara Alonso‐Diaz, et al.
Pubblicazione: (2025)

Placenta Pathologies in Two Patients With Glycogen Storage Disease Type Ia and Preeclampsia
di: V. Laufs, et al.
Pubblicazione: (2025)

Treatment of Single Patient With PMM2 ‐Congenital Disorder of Glycosylation With Govorestat ( AT ‐007), an Aldose Reductase Inhibitor
di: Elizabeth R. Jalazo, et al.
Pubblicazione: (2025)

Clinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib
di: Gregory Lynch, et al.
Pubblicazione: (2026)

Correction to “Expanding the Genetic and Clinical Spectrum of SLC25A42 Associated Disorders and Testing of Pantothenic Acid to Improve CoA Level In Vitro”
Pubblicazione: (2025)

Correction to “Farber's Lipogranulomatosis: Multimodal Therapy With Tocilizumab and Consolidative HSCT Improves Assessment, and Long‐Term Outcome”
Pubblicazione: (2025)

Self‐Reported Liver Disease and the Burden of Erythropoietic Protoporphyria
di: Hetanshi Naik, et al.
Pubblicazione: (2025)

A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency
di: Khalid Al‐Thihli, et al.
Pubblicazione: (2024)

In vivo glycerol metabolism in patients with glycerol kinase deficiency
di: Ankit Shah, et al.
Pubblicazione: (2024)

Sleep quality in children with hepatic glycogen storage diseases, a prospective observational pilot study
di: Lucas Agnoletto, et al.
Pubblicazione: (2024)