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Liver MR elastography in Gaucher disease: Longitudinal association with disease severity.

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The New England journal of medicine·2026

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Molecular genetics and metabolism·2026

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Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

Science advances·2026

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Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies.

Journal of clinical medicine·2026

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Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina.

JIMD reports·2026

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Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review.

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Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study.

JIMD reports·2026

Related Experiment Videos

Erratum

Related Concept Videos

Liver MR elastography in Gaucher disease: Longitudinal association with disease severity.

Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector Delivery.

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG.

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies.

Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina.

JAK Inhibition in <i>PNPT1</i>-Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial-Immune Crosstalk.

Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review.

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Longitudinal Changes in Glutamine and Ammonia in Relation to Hyperammonemic Crisis in Urea Cycle Disorders.

Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study.

Related Experiment Videos

Erratum

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Related Articles

Liver MR elastography in Gaucher disease: Longitudinal association with disease severity.

Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector Delivery.

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG.

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Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies.

Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina.

JAK Inhibition in <i>PNPT1</i>-Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial-Immune Crosstalk.

Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review.

Cardiac Manifestation in Wilson Disease: Results of a 9-Year Prospective Cohort.

Longitudinal Changes in Glutamine and Ammonia in Relation to Hyperammonemic Crisis in Urea Cycle Disorders.

Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study.