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Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1

Journal of lipid research, 2024-08, Vol.65 (8), p.100600, Article 100600

2024

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A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma[S]

Journal of lipid research, 2011-07, Vol.52 (7), p.1435-1445

2011

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N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease

Journal of lipid research, 2019-08, Vol.60 (8), p.1410-1424

2019

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Development of a bile acid-based newborn screen for Niemann-Pick disease type C

Science translational medicine, 2016-05, Vol.8 (337), p.337ra63

2016

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Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease

Science translational medicine, 2010-11, Vol.2 (56), p.56ra81

2010

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Hypercalcemia in Patients with Williams-Beuren Syndrome

The Journal of pediatrics, 2016-11, Vol.178, p.254-260.e4

2016

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Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease

Molecular genetics and metabolism, 2020-04, Vol.129 (4), p.292-302

2020

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Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1

Molecular genetics and metabolism, 2020-12, Vol.131 (4), p.405-417

2020

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Commentary on Metabolic Acidosis in a Pediatric Patient with Leukemia and Fungal Infection

Clinical chemistry (Baltimore, Md.), 2020-04, Vol.66 (4), p.522-523

Dietzen, Dennis J

2020

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First-trimester prediction of preeclampsia using metabolomic biomarkers: a discovery phase study

Prenatal diagnosis, 2011-10, Vol.31 (10), p.990-994

2011

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Airway Hyperresponsiveness in Children With Sickle Cell Anemia

Chest, 2011-03, Vol.139 (3), p.563-568

2011

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Effects of Phosphate Binder Therapy on Vascular Stiffness in Early-Stage Chronic Kidney Disease

American journal of nephrology, 2013-01, Vol.38 (2), p.158-167

2013

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Impact of premature birth and critical illness on neonatal range of plasma amino acid concentrations determined by LC-MS/MS

Molecular genetics and metabolism, 2011-12, Vol.104 (4), p.476-479

2011

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Clinical implications of inaccurate potassium determination in hemolyzed pediatric blood specimens

Clinica chimica acta, 2024-04, Vol.557, p.117862-117862, Article 117862

2024

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The VALIDity of laboratory developed tests: Leave it to the experts?

Journal of mass spectrometry and advances in the clinical lab, 2023-01, Vol.27, p.1-6

2023

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In-vitro study of lithium binding by sodium zirconium cyclosilicate (Lokelma®) or patiromer (Veltassa®)

Toxicology communications, 2021-11, Vol.5 (1), p.161-164

2021

Volltextzugriff (PDF)

Fifty Shades of Yellow

Clinical chemistry (Baltimore, Md.), 2017-05, Vol.63 (5), p.937-938

Dietzen, Dennis J

2017

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Impact of Peripheral Ketolytic Deficiency on Hepatic Ketogenesis and Gluconeogenesis during the Transition to Birth

The Journal of biological chemistry, 2013-07, Vol.288 (27), p.19739-19749

2013

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A 3-Year-Old Girl with Acute Liver Failure and Status Epilepticus

Clinical chemistry (Baltimore, Md.), 2022-11, Vol.68 (11), p.1471-1474

2022

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The Influence of Skeletal Muscle on the Regulation of Liver:Body Mass and Liver Regeneration

The American journal of pathology, 2012-02, Vol.180 (2), p.575-582

2012

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Ketogenesis prevents diet-induced fatty liver injury and hyperglycemia

The Journal of clinical investigation, 2014-12, Vol.124 (12), p.5175-5190

2014

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Clinical Utility of LC-MS/MS for Blood Myo-Inositol in Patients with Acute Kidney Injury and Chronic Kidney Disease

Clinical chemistry (Baltimore, Md.), 2024-08

2024

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Unleashing the Power of Laboratory Developed Tests: Closing Gaps in COVID Diagnosis and Beyond

The journal of applied laboratory medicine, 2020-09, Vol.5 (5), p.844-846

Dietzen, Dennis J

2020

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New horizons in pediatric reference intervals

Clinical biochemistry, 2015-09, Vol.48 (13-14), p.827-827

Dietzen, Dennis J.

2015

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High-sensitivity neonatal urine drug testing has similar positivity rates to meconium for detecting in utero exposure to methamphetamine and cocaine

Journal of analytical toxicology, 2024-03, Vol.48 (2), p.99-103

2024

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Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma[S]

N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease

Development of a bile acid-based newborn screen for Niemann-Pick disease type C

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease

Hypercalcemia in Patients with Williams-Beuren Syndrome

Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease

Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1

Commentary on Metabolic Acidosis in a Pediatric Patient with Leukemia and Fungal Infection

First-trimester prediction of preeclampsia using metabolomic biomarkers: a discovery phase study

Airway Hyperresponsiveness in Children With Sickle Cell Anemia

Effects of Phosphate Binder Therapy on Vascular Stiffness in Early-Stage Chronic Kidney Disease

Impact of premature birth and critical illness on neonatal range of plasma amino acid concentrations determined by LC-MS/MS

Clinical implications of inaccurate potassium determination in hemolyzed pediatric blood specimens

The VALIDity of laboratory developed tests: Leave it to the experts?

In-vitro study of lithium binding by sodium zirconium cyclosilicate (Lokelma®) or patiromer (Veltassa®)

Fifty Shades of Yellow

Impact of Peripheral Ketolytic Deficiency on Hepatic Ketogenesis and Gluconeogenesis during the Transition to Birth

A 3-Year-Old Girl with Acute Liver Failure and Status Epilepticus

The Influence of Skeletal Muscle on the Regulation of Liver:Body Mass and Liver Regeneration

Ketogenesis prevents diet-induced fatty liver injury and hyperglycemia

Clinical Utility of LC-MS/MS for Blood Myo-Inositol in Patients with Acute Kidney Injury and Chronic Kidney Disease

Unleashing the Power of Laboratory Developed Tests: Closing Gaps in COVID Diagnosis and Beyond

New horizons in pediatric reference intervals

High-sensitivity neonatal urine drug testing has similar positivity rates to meconium for detecting in utero exposure to methamphetamine and cocaine

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