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Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease

International journal of molecular sciences, 2019-06, Vol.20 (12), p.3033

2019

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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Orphanet journal of rare diseases, 2019-08, Vol.14 (1), p.209-209, Article 209

2019

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Ganglioside quantification in dried blood spots: A potential biochemical tool to diagnose and monitor metabolic and neurodegenerative diseases

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107828, Article 107828

2024

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Glucosylsphingosine concentration in the blood of Gaucher patients reflects the severity of GBA mutations - data from a large global cohort

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S35-S35

2018

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Glucosylsphingosine for the screening, diagnosis, monitoring and prediction in Gaucher disease

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S43-S43

2020

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Hyaline fibromatosis syndrome: Genetic, clinical and biochemical characterization of a large cohort of patients

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S43-S43

2020

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Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders

Genes, 2023-09, Vol.14 (9), p.1828

2023

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A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene

Journal of medical genetics, 2022-10, Vol.59 (10), p.993-1001

2022

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Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease

Journal of clinical medicine, 2019-10, Vol.8 (10), p.1662

2019

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The Chamber Cantatas of Antonio Vivaldi

Music Library Association. Notes, 2007, Vol.63 (3), p.604-606

Demuth, Laura

2007

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Book Reviews: Eighteenth-Century Studies - "The Chamber Cantatas of Antonio Vivaldi," by Michael Talbot

Notes - Quarterly Journal of the Music Library Association, 2007, Vol.63 (3), p.604-606

Demuth, Laura

2007

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Structural modifications to water-soluble wheat bran arabinoxylan through milling and extrusion

Carbohydrate polymers, 2020-07, Vol.240, p.116328-116328, Article 116328

2020

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Sex, war, and disease: the role of parasite infection on weapon development and mating success in a horned beetle (Gnatocerus cornutus)

PloS one, 2012-01, Vol.7 (1), p.e28690-e28690

2012

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Epigenetic Clock and Leukocyte Telomere Length Are Associated with Vitamin D Status but not with Functional Assessments and Frailty in the Berlin Aging Study II

The journals of gerontology. Series A, Biological sciences and medical sciences, 2020-10, Vol.75 (11), p.2056-2063

2020

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Structural investigation of oxidized arabinoxylan oligosaccharides by negative ionization HILIC-qToF-MS

Analyst (London), 2020-10, Vol.145 (2), p.6691-674

2020

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Time-temperature-resolved functional and structural changes of phycocyanin extracted from Arthrospira platensis/Spirulina

Food chemistry, 2020-06, Vol.316, p.126374-126374, Article 126374

2020

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Transcriptomic clustering of critically ill COVID-19 patients

The European respiratory journal, 2023-01, Vol.61 (1), p.2200592

2023

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Glacier contribution to the North and South Saskatchewan Rivers

Hydrological processes, 2009-08, Vol.23 (18), p.2640-2653

2009

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Cardiovascular health is associated with the epigenetic clock in the Berlin Aging Study II (BASE-II)

Mechanisms of ageing and development, 2022-01, Vol.201, p.111616-111616, Article 111616

2022

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Adaptive variation in homologue number within transcript families promotes expression divergence in reef‐building coral

Molecular ecology, 2022-05, Vol.31 (9), p.2594-2610

2022

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Epigenetic aging in patients diagnosed with coronary artery disease: results of the LipidCardio study

Clinical epigenetics, 2023-01, Vol.15 (1), p.16-8, Article 16

2023

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Variant-genetic and transcript-expression analysis showed a role for the chemokine-receptor CCR5 in COVID-19 severity

International immunopharmacology, 2021-09, Vol.98, p.107825-107825, Article 107825

2021

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In vitro Colon Fermentation of Soluble Arabinoxylan Is Modified Through Milling and Extrusion

Frontiers in nutrition (Lausanne), 2021-08, Vol.8, p.707763-707763

2021

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Variants in the TERT Gene Increase the Occurrence of Solar Lentigines by Modifying Telomerase Expression Exclusively in the Skin

Journal of investigative dermatology, 2024-06, Vol.144 (6), p.1412-1415.e7

2024

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There are multiple clocks that time us: Cross-sectional and longitudinal associations among 14 alternative indicators of age and aging

The journals of gerontology. Series A, Biological sciences and medical sciences, 2024-10

2024

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Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Ganglioside quantification in dried blood spots: A potential biochemical tool to diagnose and monitor metabolic and neurodegenerative diseases

Glucosylsphingosine concentration in the blood of Gaucher patients reflects the severity of GBA mutations - data from a large global cohort

Glucosylsphingosine for the screening, diagnosis, monitoring and prediction in Gaucher disease

Hyaline fibromatosis syndrome: Genetic, clinical and biochemical characterization of a large cohort of patients

Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene

Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease

The Chamber Cantatas of Antonio Vivaldi

Book Reviews: Eighteenth-Century Studies - "The Chamber Cantatas of Antonio Vivaldi," by Michael Talbot

Structural modifications to water-soluble wheat bran arabinoxylan through milling and extrusion

Sex, war, and disease: the role of parasite infection on weapon development and mating success in a horned beetle (Gnatocerus cornutus)

Epigenetic Clock and Leukocyte Telomere Length Are Associated with Vitamin D Status but not with Functional Assessments and Frailty in the Berlin Aging Study II

Structural investigation of oxidized arabinoxylan oligosaccharides by negative ionization HILIC-qToF-MS

Time-temperature-resolved functional and structural changes of phycocyanin extracted from Arthrospira platensis/Spirulina

Transcriptomic clustering of critically ill COVID-19 patients

Glacier contribution to the North and South Saskatchewan Rivers

Cardiovascular health is associated with the epigenetic clock in the Berlin Aging Study II (BASE-II)

Adaptive variation in homologue number within transcript families promotes expression divergence in reef‐building coral

Epigenetic aging in patients diagnosed with coronary artery disease: results of the LipidCardio study

Variant-genetic and transcript-expression analysis showed a role for the chemokine-receptor CCR5 in COVID-19 severity

In vitro Colon Fermentation of Soluble Arabinoxylan Is Modified Through Milling and Extrusion

Variants in the TERT Gene Increase the Occurrence of Solar Lentigines by Modifying Telomerase Expression Exclusively in the Skin

There are multiple clocks that time us: Cross-sectional and longitudinal associations among 14 alternative indicators of age and aging

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