U. Spiekerkoetter: search on Z-Library

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1

New and Emerging Therapies for Pulmonary Arterial Hypertension

Spiekerkoetter, Edda, Kawut, Steven M., de Jesus Perez, Vinicio A.

Journal:

Annual Review of Medicine

Year:

2019

Language:

english

File:

PDF, 270 KB

english, 2019

2

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib

GrÃ¼nert, Sarah C., Elling, Roland, Maag, BÃ¤rbel, Wortmann, Saskia B., Derks, Terry G. J., Hannibal, Luciana, Schumann, Anke, Rosenbaum-Fabian, Stefanie, Spiekerkoetter, Ute

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 1009 KB

2020

3

The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD)

Hesse, Julia, Braun, Carina, Behringer, Sidney, Matysiak, Uta, Spiekerkoetter, Ute, Tucci, Sara

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 967 KB

english, 2018

4

Primary carnitine deficiency â diagnosis after heart transplantation: better late than never!

GrÃ¼nert, Sarah C., Tucci, Sara, Schumann, Anke, Schwendt, Meike, Gramer, Gwendolyn, Hoffmann, Georg F., Erbel, Michelle, Stiller, Brigitte, Spiekerkoetter, Ute

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 657 KB

2020

5

Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein

Ute Spiekerkoetter, Michael J. Bennett, Bruria Ben-Zeev, Arnold W. Strauss, Ingrid Tein

Journal:

Year:

2004

Language:

english

File:

PDF, 94 KB

english, 2004

6

VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment

Lars Hoffmann, Ulrike Haussmann, Martina Mueller, Ute Spiekerkoetter

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 397 KB

english, 2012

7

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

An I. Jonckheere, Merei Huigsloot, Martin Lammens, Jitske Jansen, Lambert P. van den Heuvel, Ute Spiekerkoetter, Jürgen-Christoph von Kleist-Retzow, Marleen Forkink, Werner J.H. Koopman, Radek Szklarc

Journal:

Year:

2011

Language:

english

File:

PDF, 1.98 MB

english, 2011

8

Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents

Thimm, Eva, Schmidt, Lisa Elena, Heldt, Katrin, Spiekerkoetter, Ute

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 155 KB

english, 2013

9

Carnitine Supplementation Induces Acylcarnitine Production in Tissues of Very Long-Chain Acyl-CoA Dehydrogenase-Deficient Mice, Without Replenishing Low Free Carnitine

Primassin, Sonja, Ter Veld, Frank, Mayatepek, Ertan, Spiekerkoetter, Ute

Journal:

Pediatric Research

Year:

2008

Language:

english

File:

PDF, 452 KB

english, 2008

10

Loss of Adenomatous Poliposis Coli- 3 Integrin Interaction Promotes Endothelial Apoptosis in Mice and Humans

de Jesus Perez, V. A., Yuan, K., Orcholski, M. E., Sawada, H., Zhao, M., Li, C. G., Tojais, N. F., Nickel, N., Rajagopalan, V., Spiekerkoetter, E., Wang, L., Dutta, R., Bernstein, D., Rabinovitch, M.

Journal:

Circulation Research

Year:

2012

Language:

english

File:

PDF, 4.17 MB

english, 2012

11

Akute Pankreatitis aufgrund eines hereditären Lipoproteinlipasemangels bei einem Säugling

Hömberg, S., Lausch, E., Spiekerkoetter, U., Horneff, G.

Journal:

Monatsschrift Kinderheilkunde

Year:

2014

Language:

german

File:

PDF, 295 KB

german, 2014

12

Assessment of cellular cobalamin metabolism in Gaucher disease

Basgalupp, Suelen Porto, Siebert, Marina, Ferreira, Charles, Behringer, Sidney, Spiekerkoetter, Ute, Hannibal, Luciana, Schwartz, Ida Vanessa Doederlein

Journal:

BMC Medical Genetics

Year:

2020

File:

PDF, 780 KB

2020

13

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous α-subunit mutations

Ute Spiekerkoetter, Angela Eeds, Zou Yue, Jonathan Haines, Arnold W. Strauss, Marshall Summar

Journal:

Year:

2002

Language:

english

File:

PDF, 161 KB

english, 2002

14

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to β-subunit mutations

Ute Spiekerkoetter, Bin Sun, Zaza Khuchua, Michael J. Bennett, Arnold W. Strauss

Journal:

Year:

2003

Language:

english

File:

PDF, 241 KB

english, 2003

15

Identification of NTBC metabolites in urine from patients with hereditary tyrosinemia type 1 using two different mass spectrometric platforms: triple stage quadrupole and LTQ-Orbitrap

Diran Herebian, Marc Lamshöft, Ertan Mayatepek, Ute Spiekerkoetter

Journal:

Rapid Communications in Mass Spectrometry

Year:

2010

Language:

english

File:

PDF, 230 KB

english, 2010

16

Cardiomyopathy and Pericardial Effusion in Infancy Point to a Fatty Acid b-Oxidation Defect After Exclusion of an Underlying Infection

U. Spiekerkoetter, T. Tenenbaum, A. Heusch, U. Wendel

Journal:

Pediatric Cardiology

Year:

2003

Language:

english

File:

PDF, 120 KB

english, 2003

17

Significant increase of succinylacetone within the first 12

Jan-Ulrich Schlump, Ertan Mayatepek, Ute Spiekerkoetter

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 125 KB

english, 2010

18

Carnitine supplementation induces long-chain acylcarnitine production—Studies in the VLCAD-deficient mouse

M. Liebig, M. Gyenes, G. Brauers, J. P. N. Ruiter, U. Wendel, E. Mayatepek, A. W. Strauss, R. J. A. Wanders, U. Spiekerkoetter

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 135 KB

english, 2006

19

Effects of a fat load and exercise on asymptomatic VLCAD deficiency

U. Spiekerkoetter

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 177 KB

english, 2007

20

Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment

J.-U. Schlump, C. Perot, K. Ketteler, M. Schiff, E. Mayatepek, U. Wendel, U. Spiekerkoetter

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 72 KB

english, 2008

21

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

U. Spiekerkoetter, M. Lindner, R. Santer, M. Grotzke, M. R. Baumgartner, H. Boehles, A. Das, C. Haase, J. B. Hennermann, D. Karall, H. de Klerk, I. Knerr, H. G. Koch, B. Plecko, W. Röschinger, K. O. S

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 160 KB

english, 2009

22

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

U. Spiekerkoetter, M. Lindner, R. Santer, M. Grotzke, M. R. Baumgartner, H. Boehles, A. Das, C. Haase, J. B. Hennermann, D. Karall, H. de Klerk, I. Knerr, H. G. Koch, B. Plecko, W. Röschinger, K. O. S

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 127 KB

english, 2009

23

Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening

Ute Spiekerkoetter

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 129 KB

english, 2010

24

Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models

Ute Spiekerkoetter, Philip A. Wood

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 153 KB

english, 2010

25

Pre-exercise medium-chain triglyceride application prevents acylcarnitine accumulation in skeletal muscle from very-long-chain acyl-CoA-dehydrogenase-deficient mice

Sonja Primassin, Sara Tucci, Diran Herebian, Annette Seibt, Lars Hoffmann, Frank ter Veld, Ute Spiekerkoetter

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 340 KB

english, 2010

26

Update on mitochondrial fatty acid oxidation disorders

Ute Spiekerkoetter, Ertan Mayatepek

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 54 KB

english, 2010

27

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

Ute Spiekerkoetter, Jean Bastin, Melanie Gillingham, Andrew Morris, Frits Wijburg, Bridget Wilcken

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 141 KB

english, 2010

28

Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC

Eva Thimm, Renate Richter-Werkle, Gudrun Kamp, Bettina Molke, Diran Herebian, Dirk Klee, Ertan Mayatepek, Ute Spiekerkoetter

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 124 KB

english, 2012

29

Immunoglobulin Isotype Profile of Tissue Transglutaminase Autoantibodies is Correlated with the Clinical Presentation of Coeliac Disease

J. Schilling, U. Spiekerkoetter, U. Wohlrab, U. Wendel, J. Seissler

Journal:

Scandinavian Journal of Immunology

Year:

2005

Language:

english

File:

PDF, 119 KB

english, 2005

30

Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress

U. Spiekerkoetter, C. Tokunaga, U. Wendel, E. Mayatepek, V. Exil, M. Duran, F. A. Wijburg, R. J. A. Wanders, A. W. Strauss

Journal:

European Journal of Clinical Investigation

Year:

2004

Language:

english

File:

PDF, 169 KB

english, 2004

31

Fasting-induced oxidative stress in very long chain acyl-CoA dehydrogenase-deficient mice

Sara Tucci, Sonja Primassin, Ute Spiekerkoetter

Journal:

Year:

2010

Language:

english

File:

PDF, 289 KB

english, 2010

32

Single dose NTBC-treatment of hereditary tyrosinemia type I

Schlune, A., Thimm, E., Herebian, D., Spiekerkoetter, U.

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 294 KB

english, 2012

33

Tandem Mass Spectrometry Screening for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: The Value of Second-Tier Enzyme Testing

Ute Spiekerkoetter, Ulrike Haussmann, Martina Mueller, Frank ter Veld, Maren Stehn, Rene Santer, Zoltan Lukacs

Journal:

The Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 145 KB

english, 2010

34

Neutrophil Elastase Is Produced by Pulmonary Artery Smooth Muscle Cells and Is Linked to Neointimal Lesions

Yu-Mee Kim, Leila Haghighat, Edda Spiekerkoetter, Hirofumi Sawada, Cristina M. Alvira, Lingli Wang, Swati Acharya, Gabriela Rodriguez-Colon, Andrew Orton, Mingming Zhao, Marlene Rabinovitch

Journal:

The American Journal of Pathology

Year:

2011

Language:

english

File:

PDF, 3.46 MB

english, 2011

35

127: Characterization of Patients with Drugs and Toxins Associated Pulmonary Arterial Hypertension: A Clinical and Outcomes Perspective

S. Snook, K. Kudelko, E. Spiekerkoetter, E. Fuh, F. Haddad, R.T. Zamanian

Journal:

The Journal of Heart and Lung Transplantation

Year:

2009

Language:

english

File:

PDF, 204 KB

english, 2009

36

19 Utility of Changes in Heart Rate and Blood Pressure during Six Minute Walk Test as Predictors of Outcomes in Pulmonary Arterial Hypertension

S. Saito, F. Haddad, M. Skhiri, A. Hsi, E. Spiekerkoetter, V. de Jesus Perez, K. Kudelko, R.T. Zamanian

Journal:

The Journal of Heart and Lung Transplantation

Year:

2011

Language:

english

File:

PDF, 65 KB

english, 2011

37

837 Echocardiographic and Clinical Predictors of Outcome in Patients with Pulmonary Arterial Hypertension

F. Haddad, R. Doyle, A.Y. Denault, M. Skhiri, E. Spiekerkoetter, V. de Jesus Perez, K. Kudelko, I. Schnittger, R. Zamanian

Journal:

The Journal of Heart and Lung Transplantation

Year:

2012

Language:

english

File:

PDF, 156 KB

english, 2012

38

Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry

Ina Schymik, Michaela Liebig, Martina Mueller, Udo Wendel, Ertan Mayatepek, Arnold W. Strauss, Ronald J.A. Wanders, Ute Spiekerkoetter

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 92 KB

english, 2006

39

Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency

Ute Spiekerkoetter, Martina Mueller, Eva Cloppenburg, Reinald Motz, Ertan Mayatepek, Burkhard Bueltmann, Christoph Korenke

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 833 KB

english, 2008

40

Medium-chain triglycerides impair lipid metabolism and induce hepatic steatosis in very long-chain acyl-CoA dehydrogenase (VLCAD)-deficient mice

Sara Tucci, Sonja Primassin, Frank Ter Veld, Ute Spiekerkoetter

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 660 KB

english, 2010

41

ESI-MS/MS measurement of free carnitine and its precursor γ-butyrobetaine in plasma and dried blood spots from patients with organic acidurias and fatty acid oxidation disorders

Sonja Primassin, Ute Spiekerkoetter

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 473 KB

english, 2010

42

Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening

Astrid Sperk, Martina Mueller, Ute Spiekerkoetter

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 150 KB

english, 2010

43

Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I

Eva Thimm, Diran Herebian, Birgit Assmann, Dirk Klee, Ertan Mayatepek, Ute Spiekerkoetter

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 242 KB

english, 2011

44

Hepatic and muscular effects of different dietary fat content in VLCAD deficient mice

Sonja Primassin, Sara Tucci, Ute Spiekerkoetter

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 419 KB

english, 2011

45

Prevalence of Malignancies After Lung Transplantation

E. Spiekerkoetter, N. Krug, M. Hoeper, K. Wiebe, M. Hamm, W. Harringer, A. Haverich, H. Fabel

Journal:

Transplantation Proceedings

Year:

1998

Language:

english

File:

PDF, 125 KB

english, 1998

46

MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency

Ute Spiekerkoetter, Bin Sun, Thomas Zytkovicz, Ronald Wanders, Arnold W. Strauss, Udo Wendel

Journal:

The Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 753 KB

english, 2003

47

Safety and Efficacy of Transition from Systemic Prostanoids to Inhaled Treprostinil in Pulmonary Arterial Hypertension

Vinicio A. de Jesus Perez, Erica Rosenzweig, Lewis J. Rubin, David Poch, Abubakr Bajwa, Myung Park, Mohit Jain, Robert C. Bourge, Kristina Kudelko, Edda Spiekerkoetter, Juliana Liu, Andrew Hsi, Roham

Journal:

The American Journal of Cardiology

Year:

2012

Language:

english

File:

PDF, 156 KB

english, 2012

48

Monounsaturated 14:1n-9 and 16:1n-9 Fatty Acids but not 18:1n-9 Induce Apoptosis and Necrosis in Murine HL-1 Cardiomyocytes

Hoffmann, Lars, Seibt, Annette, Herebian, Diran, Spiekerkoetter, Ute

Journal:

Year:

2014

Language:

english

File:

PDF, 2.42 MB

english, 2014

49

Synergistic mutations inSLC3A1andSLC7A9leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup

Kummer, Sebastian, Venghaus, Andreas, Schlune, Andrea, Leube, Barbara, Eggermann, Thomas, Spiekerkoetter, Ute

Journal:

Pediatric Nephrology

Year:

2014

Language:

english

File:

PDF, 170 KB

english, 2014

50

Development and pathomechanisms of cardiomyopathy in very long-chain acyl-CoA dehydrogenase deficient (VLCAD−/−) mice

Tucci, Sara, Flögel, Ulrich, Hermann, Sven, Sturm, Marga, Schäfers, Michael, Spiekerkoetter, Ute

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2014

Language:

english

File:

PDF, 1.30 MB

english, 2014