Detection of cystic fibrosis with plasma hydrolases

Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2010

The natural history of Niemann-Pick disease type C in the UK.

Journal of inherited metabolic disease·2006

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

American journal of human genetics·2001

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

American journal of human genetics·2001

Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using fluorogenic TaqMan probes.

Genetic testing·2001

Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.

Human genetics·2000

Wildfire smoke and health: current evidence, mechanisms, and future challenges.

Lancet (London, England)·2026

Use of the bacterial lysate OM-85 for the primary prevention of wheezing lower respiratory illness in preschool children: a randomised, placebo-controlled trial.

Lancet (London, England)·2026

Wealth redistribution policies to mitigate the impact of development assistance defunding: a retrospective evaluation and forecasting analysis up to 2030.

Lancet (London, England)·2026

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

Lancet (London, England)·2026

The changing therapeutic landscape of small-cell lung cancer.

Lancet (London, England)·2026

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

Lancet (London, England)·2026

The Many Applications of Electrostatic Adsorption for the Preparation of Supported Metal Nanoparticles.

Chemical reviews·2026

The linear-paired electrochemical synthesis of unsymmetrical sulfides by an anodic initiated mitsunobu-type activation of alcohols combined with the cathodic activation of disulfides under neutral conditions.

Organic & biomolecular chemistry·2026

Traumatic Volar Dislocation of a Hemi-Scaphoid-Lunate Complex across the Carpal Ligament: A Case Report.

Journal of orthopaedic case reports·2026

False Detection of Cheyne-Stokes Respiration on Continuous Positive Airway Pressure Resolved After Treatment of Nasal Obstruction.

Respirology case reports·2026

Photoredox Nickel-Catalyzed Dehydrogenative Alkoxycarbonylation of Benzylic C─H Bonds.

Angewandte Chemie (International ed. in English)·2026

Hydrophobic promoter in physical proximity stabilizes cobalt catalysts for durable Fischer-Tropsch synthesis.

Nature communications·2026

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Detection of cystic fibrosis with plasma hydrolases

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Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.

The natural history of Niemann-Pick disease type C in the UK.

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using fluorogenic TaqMan probes.

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Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

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The linear-paired electrochemical synthesis of unsymmetrical sulfides by an anodic initiated mitsunobu-type activation of alcohols combined with the cathodic activation of disulfides under neutral conditions.

Traumatic Volar Dislocation of a Hemi-Scaphoid-Lunate Complex across the Carpal Ligament: A Case Report.

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Photoredox Nickel-Catalyzed Dehydrogenative Alkoxycarbonylation of Benzylic C─H Bonds.

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Detection of cystic fibrosis with plasma hydrolases

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