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Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy

JIMD Reports, Volume 22, 2015, Vol.22, p.39-45

2015

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Treatment with a GPIIb/IIIa antagonist inhibits thrombin generation in platelet rich plasma from patients

Thrombosis and haemostasis, 1998-09, Vol.80 (3), p.370-371

1998

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Disorder in the Serotonergic System due to Tryptophan Hydroxylation Impairment: A Cause of Hypothalamic Syndrome?

Hormone research in paediatrics, 2010-01, Vol.73 (1), p.68-73

2010

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The role of factor XI in thrombin generation induced by low concentrations of tissue factor

Thrombosis and haemostasis, 2001-06, Vol.85 (6), p.1060-1065

2001

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alpha(2A)-adrenergic receptor stimulation potentiates calcium release in platelets by modulating cAMP levels

The Journal of biological chemistry, 2000-01, Vol.275 (3), p.1763

2000

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The effect of DDAVP infusion on thrombin generation in platelet-rich plasma of von Willebrand type 1 and in mild haemophilia A patients

Thrombosis and haemostasis, 2000-10, Vol.84 (4), p.638-642

2000

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Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

Orphanet journal of rare diseases, 2016-06, Vol.11 (1), p.87-87, Article 87

2016

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Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism

Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.415-424

2018

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Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.337-353

2018

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Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS

Scientific reports, 2020-07, Vol.10 (1), p.11389-11389, Article 11389

2020

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Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism

Journal of inherited metabolic disease, 2021-09, Vol.44 (5), p.1113-1123

2021

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Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II

Communications biology, 2022-09, Vol.5 (1), p.997-997, Article 997

2022

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Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

American journal of human genetics, 2017-12, Vol.101 (6), p.965-976

2017

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Benefits of the iQ200 automated urine microscopy analyser in routine urinalysis

Clinical chemistry and laboratory medicine, 2008-11, Vol.46 (11), p.1635-1640

2008

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Fatal cerebral edema associated with serine deficiency in CSF

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.181-185

2010

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Endochondral ossification in a case of progressive osseous heteroplasia in a young female child

Journal of pediatric orthopaedics. B, 2014-09, Vol.23 (5), p.477-484

2014

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Molecular and Morphological Tools to Distinguish Scyphophorus acupunctatus Gyllenhal, 1838 (Curculionidae: Dryophthorinae): A New Weevil Pest of the Endangered Century Plant, Agave eggersiana from St. Croix, U.S. Virgin Islands

Proceedings of the Entomological Society of Washington, 2016-04, Vol.118 (2), p.218

2016

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Detection and identification of low-concentration M proteins with CZE/IS; a 'dry' analysis

Annals of clinical biochemistry, 2005-03, Vol.42 (Pt 2), p.133-135

2005

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Altered Carbon Dioxide Metabolism and Creatine Abnormalities in Rett Syndrome

JIMD Reports - Case and Research Reports, 2011/3, 2012-01, Vol.3, p.117-124

2012

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Î±2A-Adrenergic Receptor Stimulation Potentiates Calcium Release in Platelets by Modulating cAMP Levels

The Journal of biological chemistry, 2000-01, Vol.275 (3), p.1763

2000

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An unusual presentation of progressive osseous heteroplasia in a 7-year-old female child

Bone Abstracts, 2013-06

2013

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Bioassay and Avoidance (REPELLENCY) Evaluation of Adulticides, 1988

Insecticide and acaricide tests, 1989-01, Vol.14 (1), p.68-68

1989

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Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy

Treatment with a GPIIb/IIIa antagonist inhibits thrombin generation in platelet rich plasma from patients

Disorder in the Serotonergic System due to Tryptophan Hydroxylation Impairment: A Cause of Hypothalamic Syndrome?

The role of factor XI in thrombin generation induced by low concentrations of tissue factor

alpha(2A)-adrenergic receptor stimulation potentiates calcium release in platelets by modulating cAMP levels

The effect of DDAVP infusion on thrombin generation in platelet-rich plasma of von Willebrand type 1 and in mild haemophilia A patients

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS

Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism

Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation

Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests

Benefits of the iQ200 automated urine microscopy analyser in routine urinalysis

Fatal cerebral edema associated with serine deficiency in CSF

Endochondral ossification in a case of progressive osseous heteroplasia in a young female child

Molecular and Morphological Tools to Distinguish Scyphophorus acupunctatus Gyllenhal, 1838 (Curculionidae: Dryophthorinae): A New Weevil Pest of the Endangered Century Plant, Agave eggersiana from St. Croix, U.S. Virgin Islands

Detection and identification of low-concentration M proteins with CZE/IS; a 'dry' analysis

Altered Carbon Dioxide Metabolism and Creatine Abnormalities in Rett Syndrome

Î±2A-Adrenergic Receptor Stimulation Potentiates Calcium Release in Platelets by Modulating cAMP Levels

An unusual presentation of progressive osseous heteroplasia in a 7-year-old female child

Bioassay and Avoidance (REPELLENCY) Evaluation of Adulticides, 1988

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