Prenatal diagnosis of two Hurler fetuses using an improved assay for methylumbelliferyl-alpha-L-iduronidase

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

Izalontamab brengitecan versus platinum-based chemotherapy in EGFR-mutated advanced non-squamous non-small-cell lung cancer after progression on third-generation EGFR tyrosine kinase inhibitors (PANKU-Lung01): a multicentre, randomised, open-label, phase 3 trial in China.

Lancet (London, England)·2026

Sacituzumab tirumotecan versus treatment of physician's choice in previously treated endometrial cancer (TroFuse-005/ENGOT-en23/GOG-3095): a randomised, open-label, phase 3 trial.

Lancet (London, England)·2026

Izalontamab brengitecan for HR+/HER2- breast cancer in China (PANKU-Breast01): a randomised, phase 3 trial.

Lancet (London, England)·2026

First-line pembrolizumab versus carboplatin plus paclitaxel in participants with mismatch repair-deficient advanced or recurrent endometrial cancer (KEYNOTE-C93/GOG-3064/ENGOT-en15): interim analysis of a multicentre, open-label, randomised, active-comparator controlled, phase 3 trial.

Lancet (London, England)·2026

Ruzaltatug rezetecan versus chemotherapy for EGFR-mutated advanced non-small-cell lung cancer progressing after EGFR tyrosine kinase inhibitor therapy (HERON-Lung01): interim analysis of a randomised, open-label, phase 3 trial in China.

Lancet (London, England)·2026

14-day versus 28-day trifluridine-tipiracil plus bevacizumab for refractory metastatic colorectal cancer (PRABITAS): a pragmatic, multicentre, open-label, randomised, phase 3, non-inferiority trial in Japan.

Lancet (London, England)·2026

The Diagnostic Value and Molecular Mechanism of miR-1271-5p Combined with Ultrasound in Endometriosis.

Journal of visualized experiments : JoVE·2026

Label‑Free Optical Biosensing of Interleukin‑6, Procalcitonin, and High-Sensitivity C-Reactive Protein as Inflammatory Biomarkers in Cardiovascular Disease: A Review.

Biotechnology and applied biochemistry·2026

Ultra-sensitive detection of receptor binding domain of SARS-CoV-2 based on artificial intelligence assisted antibody selection and antibody‒nucleic acid conjugation signal amplification.

Acta pharmaceutica Sinica. B·2026

Vitamin D status and systemic inflammatory burden as a predictor of biologic treatment response in psoriasis -A pilot study in Northern Ireland.

Clinical and experimental dermatology·2026

Upregulation of miR-200b-3p serves as a diagnostic biomarker for coronary atherosclerosis and regulates the oxidized low-density lipoprotein cholesterol-induced dysfunction of vascular smooth muscle cells.

BMC cardiovascular disorders·2026

The Role of Clinical Pharmacists in Translating Regulatory Acceptance of Biosimilars into Routine Clinical Practice.

Pharmaceutical medicine·2026

Related Experiment Videos

Prenatal diagnosis of two Hurler fetuses using an improved assay for methylumbelliferyl-alpha-L-iduronidase

Related Concept Videos

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.

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

Izalontamab brengitecan versus platinum-based chemotherapy in EGFR-mutated advanced non-squamous non-small-cell lung cancer after progression on third-generation EGFR tyrosine kinase inhibitors (PANKU-Lung01): a multicentre, randomised, open-label, phase 3 trial in China.

Sacituzumab tirumotecan versus treatment of physician's choice in previously treated endometrial cancer (TroFuse-005/ENGOT-en23/GOG-3095): a randomised, open-label, phase 3 trial.

Izalontamab brengitecan for HR+/HER2- breast cancer in China (PANKU-Breast01): a randomised, phase 3 trial.

First-line pembrolizumab versus carboplatin plus paclitaxel in participants with mismatch repair-deficient advanced or recurrent endometrial cancer (KEYNOTE-C93/GOG-3064/ENGOT-en15): interim analysis of a multicentre, open-label, randomised, active-comparator controlled, phase 3 trial.

Ruzaltatug rezetecan versus chemotherapy for EGFR-mutated advanced non-small-cell lung cancer progressing after EGFR tyrosine kinase inhibitor therapy (HERON-Lung01): interim analysis of a randomised, open-label, phase 3 trial in China.

14-day versus 28-day trifluridine-tipiracil plus bevacizumab for refractory metastatic colorectal cancer (PRABITAS): a pragmatic, multicentre, open-label, randomised, phase 3, non-inferiority trial in Japan.

The Diagnostic Value and Molecular Mechanism of miR-1271-5p Combined with Ultrasound in Endometriosis.

Label‑Free Optical Biosensing of Interleukin‑6, Procalcitonin, and High-Sensitivity C-Reactive Protein as Inflammatory Biomarkers in Cardiovascular Disease: A Review.

Ultra-sensitive detection of receptor binding domain of SARS-CoV-2 based on artificial intelligence assisted antibody selection and antibody‒nucleic acid conjugation signal amplification.

Vitamin D status and systemic inflammatory burden as a predictor of biologic treatment response in psoriasis -A pilot study in Northern Ireland.

Upregulation of miR-200b-3p serves as a diagnostic biomarker for coronary atherosclerosis and regulates the oxidized low-density lipoprotein cholesterol-induced dysfunction of vascular smooth muscle cells.

The Role of Clinical Pharmacists in Translating Regulatory Acceptance of Biosimilars into Routine Clinical Practice.

Related Experiment Videos

Prenatal diagnosis of two Hurler fetuses using an improved assay for methylumbelliferyl-alpha-L-iduronidase

Related Concept Videos

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