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Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases

Analytical biochemistry, 2017-05, Vol.525, p.73-77

2017

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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Molecular genetics and metabolism, 2008-03, Vol.93 (3), p.275-281

2008

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Erdafitinib in patients with advanced solid tumours with FGFR alterations (RAGNAR): an international, single-arm, phase 2 study

The lancet oncology, 2023-08, Vol.24 (8), p.925-935

2023

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Assessment of Relations between Clinical Outcome of Ischemic Stroke and Activity of Inflammatory Processes in the Acute Phase Based on Examination of Selected Parameters

European neurology, 2005-01, Vol.53 (4), p.188-193

2005

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High‐throughput molecular assays for inclusion in personalised oncology trials – State‐of‐the‐art and beyond

Journal of internal medicine, 2024-06, Vol.295 (6), p.785-803

2024

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Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation – a novel phenotype of the mitochondrial disease

Clinical genetics, 2017-01, Vol.91 (1), p.30-37

2017

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Late onset GM2 gangliosidosis mimicking spinal muscular atrophy

Gene, 2013-09, Vol.527 (2), p.679-682

2013

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Non-neuronopathic Gaucher disease due to saposin C deficiency

Clinical genetics, 2007-12, Vol.72 (6), p.538-542

2007

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Anti-tumor activity of RP12146, a PARP1/2 inhibitor, in patients with metastatic castration-resistant prostate cancer

Journal of clinical oncology, 2024-02, Vol.42 (4_suppl), p.154-154

2024

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Molecular and clinical consequences of novel mutations in the arylsulfatase A gene

Clinical genetics, 2009-01, Vol.75 (1), p.57-64

2009

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Safety, pharmacokinetics and anti-tumor activity of RP12146, a PARP1/2 inhibitor, in patients with locally advanced or metastatic solid tumors

Journal of clinical oncology, 2023-06, Vol.41 (16_suppl), p.3097-3097

2023

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Efficacy and safety of erdafitinib in adults with NSCLC and prespecified fibroblast growth factor receptor alterations in the phase 2 open-label, single-arm RAGNAR trial

Journal of clinical oncology, 2024-06, Vol.42 (16_suppl), p.8515-8515

2024

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A phase 1, open-label, multicenter study evaluating MK-1084 as monotherapy and in combination with other therapies in patients with KRAS G12C mutant advanced solid tumors

Journal of clinical oncology, 2024-01, Vol.42 (3_suppl), p.TPS232-TPS232

2024

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Efficacy and safety of trastuzumab deruxtecan (T-DXd) in patients (pts) with HER2-expressing solid tumors: DESTINY-PanTumor02 (DP-02) interim results

Journal of clinical oncology, 2023-06, Vol.41 (17_suppl), p.LBA3000-LBA3000

2023

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A phase 1 dose-escalation study to investigate the safety, efficacy, pharmacokinetics, and pharmacodynamic activity of cln-619 (Anti-MICA/B antibody) alone and in combination with pembrolizumab in patients with advanced solid tumors

Journal of clinical oncology, 2023-06, Vol.41 (16_suppl), p.2532-2532

2023

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Tumor agnostic efficacy and safety of erdafitinib (erda) in patients (pts) with advanced solid tumors with prespecified FGFR alterations ( FGFRalt ): RAGNAR primary analysis

Journal of clinical oncology, 2023-06, Vol.41 (16_suppl), p.3121-3121

2023

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Histopathological response (HR) after neoadjuvant chemotherapy (ChT) for high-risk soft tissue sarcomas (STS): A planned analysis of the ISG-STS-1001 trial

Journal of clinical oncology, 2023-06, Vol.41 (16_suppl), p.11511-11511

2023

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Lorigerlimab, a bispecific PD-1×CTLA-4 DART molecule in patients (pts) with metastatic castration-resistant prostate cancer (mCRPC): A phase 1 expansion (exp) cohort

Journal of clinical oncology, 2023-02, Vol.41 (6_suppl), p.155-155

2023

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Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature

Folia neuropathologica, 2012, Vol.50 (4), p.346-356

2012

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Metachromatic leukodystrophy – a neurometabolic disorder of sulfatide metabolism

European journal of paediatric neurology, 2008, Vol.12, p.S14-S15

2008

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Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome

Neuromuscular disorders : NMD, 2006-04, Vol.16 (4), p.282-285

2006

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Pathology of skeletal muscle cells in adult-onset glycogenosis type II (Pompe disease): ultrastructural study

Folia neuropathologica, 2008, Vol.46 (2), p.123-133

2008

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Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland

Clinical genetics, 2005-07, Vol.68 (1), p.48-54

2005

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Mutations c.459 + 1G > A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries

Molecular genetics and metabolism, 2005-11, Vol.86 (3), p.353-359

2005

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Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Erdafitinib in patients with advanced solid tumours with FGFR alterations (RAGNAR): an international, single-arm, phase 2 study

Assessment of Relations between Clinical Outcome of Ischemic Stroke and Activity of Inflammatory Processes in the Acute Phase Based on Examination of Selected Parameters

PCM4EU and PRIME-ROSE: Collaboration for implementation of precision cancer medicine in Europe

High‐throughput molecular assays for inclusion in personalised oncology trials – State‐of‐the‐art and beyond

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation – a novel phenotype of the mitochondrial disease

Late onset GM2 gangliosidosis mimicking spinal muscular atrophy

Non-neuronopathic Gaucher disease due to saposin C deficiency

Anti-tumor activity of RP12146, a PARP1/2 inhibitor, in patients with metastatic castration-resistant prostate cancer

Molecular and clinical consequences of novel mutations in the arylsulfatase A gene

Safety, pharmacokinetics and anti-tumor activity of RP12146, a PARP1/2 inhibitor, in patients with locally advanced or metastatic solid tumors

Efficacy and safety of erdafitinib in adults with NSCLC and prespecified fibroblast growth factor receptor alterations in the phase 2 open-label, single-arm RAGNAR trial

A phase 1, open-label, multicenter study evaluating MK-1084 as monotherapy and in combination with other therapies in patients with KRAS G12C mutant advanced solid tumors

Efficacy and safety of trastuzumab deruxtecan (T-DXd) in patients (pts) with HER2-expressing solid tumors: DESTINY-PanTumor02 (DP-02) interim results

A phase 1 dose-escalation study to investigate the safety, efficacy, pharmacokinetics, and pharmacodynamic activity of cln-619 (Anti-MICA/B antibody) alone and in combination with pembrolizumab in patients with advanced solid tumors

Tumor agnostic efficacy and safety of erdafitinib (erda) in patients (pts) with advanced solid tumors with prespecified FGFR alterations ( FGFRalt ): RAGNAR primary analysis

Histopathological response (HR) after neoadjuvant chemotherapy (ChT) for high-risk soft tissue sarcomas (STS): A planned analysis of the ISG-STS-1001 trial

Lorigerlimab, a bispecific PD-1×CTLA-4 DART molecule in patients (pts) with metastatic castration-resistant prostate cancer (mCRPC): A phase 1 expansion (exp) cohort

Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature

Metachromatic leukodystrophy – a neurometabolic disorder of sulfatide metabolism

Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome

Pathology of skeletal muscle cells in adult-onset glycogenosis type II (Pompe disease): ultrastructural study

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland

Mutations c.459 + 1G > A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries

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