An adult with a non-neuronopathic form of Niemann-Pick C disease

Do health education initiatives assist socioeconomically disadvantaged populations? A systematic review and meta-analyses.

BMC public health·2023

Observation and Measurement of Forward Proton Scattering in Association with Lepton Pairs Produced via the Photon Fusion Mechanism at ATLAS.

Physical review letters·2021

Search for Heavy Resonances Decaying into a Photon and a Hadronically Decaying Higgs Boson in pp Collisions at sqrt[s]=13 TeV with the ATLAS Detector.

Physical review letters·2021

Search for Higgs Boson Decays into a Z Boson and a Light Hadronically Decaying Resonance Using 13 TeV pp Collision Data from the ATLAS Detector.

Physical review letters·2020

Dijet Resonance Search with Weak Supervision Using sqrt[s]=13 TeV pp Collisions in the ATLAS Detector.

Physical review letters·2020

CP Properties of Higgs Boson Interactions with Top Quarks in the tt[over ¯]H and tH Processes Using H→γγ with the ATLAS Detector.

Physical review letters·2020

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy.

Journal of inherited metabolic disease·2026

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

Journal of inherited metabolic disease·2026

Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

Journal of inherited metabolic disease·2026

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Journal of inherited metabolic disease·2026

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Journal of inherited metabolic disease·2026

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Journal of inherited metabolic disease·2026

Screening colonoscopy utilization among adults living with spina bifida.

Journal of pediatric rehabilitation medicine·2026

PBRM1 Deficiency in Microglia Leads to Excessive Neurogenesis and Autism-Like Behaviors via the CCL5-CCR1/5-β-catenin Signaling Axis.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

Frontiers in Neurotransmitter Probes: Innovations and Perspectives in Norepinephrine Detection Technology.

Journal of analytical methods in chemistry·2026

Indications and outcomes of ventricular assist devices in children and young adults with neuromuscular diseases: A systematic review.

JHLT open·2026

Brain imaging in dystrophinopathies.

Journal of neurology·2026

Cryo-EM advances in TDP-43 amyloid fibrils structure determination.

Neurobiology of disease·2026

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An adult with a non-neuronopathic form of Niemann-Pick C disease

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Do health education initiatives assist socioeconomically disadvantaged populations? A systematic review and meta-analyses.

Observation and Measurement of Forward Proton Scattering in Association with Lepton Pairs Produced via the Photon Fusion Mechanism at ATLAS.

Search for Heavy Resonances Decaying into a Photon and a Hadronically Decaying Higgs Boson in pp Collisions at sqrt[s]=13 TeV with the ATLAS Detector.

Search for Higgs Boson Decays into a Z Boson and a Light Hadronically Decaying Resonance Using 13 TeV pp Collision Data from the ATLAS Detector.

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CP Properties of Higgs Boson Interactions with Top Quarks in the tt[over ¯]H and tH Processes Using H→γγ with the ATLAS Detector.

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Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

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Screening colonoscopy utilization among adults living with spina bifida.

PBRM1 Deficiency in Microglia Leads to Excessive Neurogenesis and Autism-Like Behaviors via the CCL5-CCR1/5-β-catenin Signaling Axis.

Frontiers in Neurotransmitter Probes: Innovations and Perspectives in Norepinephrine Detection Technology.

Indications and outcomes of ventricular assist devices in children and young adults with neuromuscular diseases: A systematic review.

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An adult with a non-neuronopathic form of Niemann-Pick C disease

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