---
_id: '12402'
abstract:
- lang: eng
  text: In anaerobic technology, pH values are crucial for targeted volatile fatty
    acid production. While pH dynamics can be modeled using the Anaerobic Digestion
    Model No. 1 (ADM1), simulation results may be biased. To address this issue, the
    pH prediction routine of Visual Water, a specialized water chemistry simulator,
    was validated. Unlike ADM1, it accounts for ionic strength and activities while
    also providing an automated uncertainty analysis. The analysis revealed Visual Water
    simulations to better fit measured pH data from acidic solutions in a miniaturized
    stirred-tank reactor.
author:
- first_name: Pascal
  full_name: Kosse, Pascal
  last_name: Kosse
- first_name: Tanja
  full_name: Hernández Rodriguez, Tanja
  id: '52466'
  last_name: Hernández Rodriguez
- first_name: Björn
  full_name: Frahm, Björn
  id: '45666'
  last_name: Frahm
- first_name: Manfred
  full_name: Lübken, Manfred
  last_name: Lübken
- first_name: Marc
  full_name: Wichern, Marc
  last_name: Wichern
citation:
  ama: Kosse P, Hernández Rodriguez T, Frahm B, Lübken M, Wichern M. Comparative Analysis
    of pH Prediction Routines in ADM1 and a Specialized Water Chemistry Simulator.
    <i>Chemie Ingenieur Technik</i>. 2024;96(4):528-534. doi:<a href="https://doi.org/10.1002/cite.202300188">10.1002/cite.202300188</a>
  apa: Kosse, P., Hernández Rodriguez, T., Frahm, B., Lübken, M., &#38; Wichern, M.
    (2024). Comparative Analysis of pH Prediction Routines in ADM1 and a Specialized
    Water Chemistry Simulator. <i>Chemie Ingenieur Technik</i>, <i>96</i>(4), 528–534.
    <a href="https://doi.org/10.1002/cite.202300188">https://doi.org/10.1002/cite.202300188</a>
  bjps: <b>Kosse P <i>et al.</i></b> (2024) Comparative Analysis of PH Prediction
    Routines in ADM1 and a Specialized Water Chemistry Simulator. <i>Chemie Ingenieur
    Technik</i> <b>96</b>, 528–534.
  chicago: 'Kosse, Pascal, Tanja Hernández Rodriguez, Björn Frahm, Manfred Lübken,
    and Marc Wichern. “Comparative Analysis of PH Prediction Routines in ADM1 and
    a Specialized Water Chemistry Simulator.” <i>Chemie Ingenieur Technik</i> 96,
    no. 4 (2024): 528–34. <a href="https://doi.org/10.1002/cite.202300188">https://doi.org/10.1002/cite.202300188</a>.'
  chicago-de: 'Kosse, Pascal, Tanja Hernández Rodriguez, Björn Frahm, Manfred Lübken
    und Marc Wichern. 2024. Comparative Analysis of pH Prediction Routines in ADM1
    and a Specialized Water Chemistry Simulator. <i>Chemie Ingenieur Technik</i> 96,
    Nr. 4: 528–534. doi:<a href="https://doi.org/10.1002/cite.202300188">10.1002/cite.202300188</a>,
    .'
  din1505-2-1: '<span style="font-variant:small-caps;">Kosse, Pascal</span> ; <span
    style="font-variant:small-caps;">Hernández Rodriguez, Tanja</span> ; <span style="font-variant:small-caps;">Frahm,
    Björn</span> ; <span style="font-variant:small-caps;">Lübken, Manfred</span> ;
    <span style="font-variant:small-caps;">Wichern, Marc</span>: Comparative Analysis
    of pH Prediction Routines in ADM1 and a Specialized Water Chemistry Simulator.
    In: <i>Chemie Ingenieur Technik</i> Bd. 96. Weinheim, Wiley (2024), Nr. 4, S. 528–534'
  havard: P. Kosse, T. Hernández Rodriguez, B. Frahm, M. Lübken, M. Wichern, Comparative
    Analysis of pH Prediction Routines in ADM1 and a Specialized Water Chemistry Simulator,
    Chemie Ingenieur Technik. 96 (2024) 528–534.
  ieee: 'P. Kosse, T. Hernández Rodriguez, B. Frahm, M. Lübken, and M. Wichern, “Comparative
    Analysis of pH Prediction Routines in ADM1 and a Specialized Water Chemistry Simulator,”
    <i>Chemie Ingenieur Technik</i>, vol. 96, no. 4, pp. 528–534, 2024, doi: <a href="https://doi.org/10.1002/cite.202300188">10.1002/cite.202300188</a>.'
  mla: Kosse, Pascal, et al. “Comparative Analysis of PH Prediction Routines in ADM1
    and a Specialized Water Chemistry Simulator.” <i>Chemie Ingenieur Technik</i>,
    vol. 96, no. 4, 2024, pp. 528–34, <a href="https://doi.org/10.1002/cite.202300188">https://doi.org/10.1002/cite.202300188</a>.
  short: P. Kosse, T. Hernández Rodriguez, B. Frahm, M. Lübken, M. Wichern, Chemie
    Ingenieur Technik 96 (2024) 528–534.
  ufg: '<b>Kosse, Pascal u. a.</b>: Comparative Analysis of pH Prediction Routines
    in ADM1 and a Specialized Water Chemistry Simulator, in: <i>Chemie Ingenieur Technik</i>
    96 (2024), H. 4,  S. 528–534.'
  van: Kosse P, Hernández Rodriguez T, Frahm B, Lübken M, Wichern M. Comparative Analysis
    of pH Prediction Routines in ADM1 and a Specialized Water Chemistry Simulator.
    Chemie Ingenieur Technik. 2024;96(4):528–34.
date_created: 2025-01-29T13:49:16Z
date_updated: 2025-06-25T12:42:09Z
department:
- _id: DEP4000
doi: 10.1002/cite.202300188
external_id:
  isi:
  - '001169606600001'
intvolume: '        96'
isi: '1'
issue: '4'
keyword:
- Anaerobic Digestion Model No. 1 (ADM1)
- Anaerobic technology
- pH simulation
- Uncertainty assessment
- Visual Water
language:
- iso: eng
page: 528-534
place: Weinheim
publication: Chemie Ingenieur Technik
publication_identifier:
  eissn:
  - 1522-2640
  issn:
  - 0009-286X
publication_status: published
publisher: Wiley
quality_controlled: '1'
status: public
title: Comparative Analysis of pH Prediction Routines in ADM1 and a Specialized Water
  Chemistry Simulator
type: scientific_journal_article
user_id: '83781'
volume: 96
year: '2024'
...
---
_id: '12846'
abstract:
- lang: eng
  text: "The decarbonization of the energy supply is one of the biggest and most important
    challenges of the 21st century. This paper contributes to the solution of the
    energy crisis by investigating the stability of alcohols as e-fuels. The focus
    is on the investigation of the aging mechanism of the linear alcohols 1-hexanol
    and 1-octanol compared to the iso-alcohol 2-hexanol. It is analysed in detail
    how the time-dependent aging varies depending on the chain length and the position
    of the hydroxy-group, both in the liquid and in the gas phase. It is shown that
    a variety of aging products such as aldehydes, acids, short-chain alcohols and
    esters are formed during the aging of the n-alcohols by oxidation, decarboxylation,
    oxidative C-C bond cleavage and esterification. In contrast, the decomposition
    of the iso-alcohol is significantly lower. The results show that the total acid
    number is significantly higher for aged n-alcohols than for the aged iso-alcohos,
    while the kinematic viscosity decreases for all alcohols during aging. Carbon
    mass balancing shows that after accelerated aging for 120 hours, around 80% of
    the iso-alcohol is still present, compared to only around 57-63% for the n-alcohols.
    In addition, significantly fewer acids are formed with the iso-alcohol. In this
    study, iso-alcohols have a higher stability against thermo-oxidative aging compared
    to n-alcohols, showing their potential as e-fuels. Furthermore, the chain length
    of the alcohols has also an influence on aging, as more different aging products
    can be formed with increasing chain length.\r\n\r\nThis paper contributes to the
    solution of the energy crisis by investigating the stability of alcohols as e-fuels.
    The focus is on the investigation of the aging mechanism of 1-hexanol and 1-octanol
    compared to the 2-hexanol."
author:
- first_name: Anne
  full_name: Lichtinger, Anne
  last_name: Lichtinger
- first_name: Maximilian J.
  full_name: Poller, Maximilian J.
  last_name: Poller
- first_name: Olaf
  full_name: Schröder, Olaf
  last_name: Schröder
- first_name: Julian
  full_name: Türck, Julian
  last_name: Türck
- first_name: Thomas
  full_name: Garbe, Thomas
  last_name: Garbe
- first_name: Jürgen
  full_name: Krahl, Jürgen
  id: '68870'
  last_name: Krahl
- first_name: Markus
  full_name: Jakob, Markus
  last_name: Jakob
- first_name: Jakob
  full_name: Albert, Jakob
  last_name: Albert
citation:
  ama: 'Lichtinger A, Poller MJ, Schröder O, et al. Thermo-oxidative aging of linear
    and branched alcohols as stability criterion for their use as e-fuels. <i>  Sustainable
    energy &#38; fuels : interdisciplinary research for the development of sustainable
    energy technologies </i>. 2024;8(15):3329-3340. doi:<a href="https://doi.org/10.1039/d4se00400k">10.1039/d4se00400k</a>'
  apa: 'Lichtinger, A., Poller, M. J., Schröder, O., Türck, J., Garbe, T., Krahl,
    J., Jakob, M., &#38; Albert, J. (2024). Thermo-oxidative aging of linear and branched
    alcohols as stability criterion for their use as e-fuels. <i>  Sustainable Energy
    &#38; Fuels : Interdisciplinary Research for the Development of Sustainable Energy
    Technologies </i>, <i>8</i>(15), 3329–3340. <a href="https://doi.org/10.1039/d4se00400k">https://doi.org/10.1039/d4se00400k</a>'
  bjps: '<b>Lichtinger A <i>et al.</i></b> (2024) Thermo-Oxidative Aging of Linear
    and Branched Alcohols as Stability Criterion for Their Use as e-Fuels. <i>  Sustainable
    energy &#38; fuels : interdisciplinary research for the development of sustainable
    energy technologies </i> <b>8</b>, 3329–3340.'
  chicago: 'Lichtinger, Anne, Maximilian J. Poller, Olaf Schröder, Julian Türck, Thomas
    Garbe, Jürgen Krahl, Markus Jakob, and Jakob Albert. “Thermo-Oxidative Aging of
    Linear and Branched Alcohols as Stability Criterion for Their Use as e-Fuels.”
    <i>  Sustainable Energy &#38; Fuels : Interdisciplinary Research for the Development
    of Sustainable Energy Technologies </i> 8, no. 15 (2024): 3329–40. <a href="https://doi.org/10.1039/d4se00400k">https://doi.org/10.1039/d4se00400k</a>.'
  chicago-de: 'Lichtinger, Anne, Maximilian J. Poller, Olaf Schröder, Julian Türck,
    Thomas Garbe, Jürgen Krahl, Markus Jakob und Jakob Albert. 2024. Thermo-oxidative
    aging of linear and branched alcohols as stability criterion for their use as
    e-fuels. <i>  Sustainable energy &#38; fuels : interdisciplinary research for
    the development of sustainable energy technologies </i> 8, Nr. 15: 3329–3340.
    doi:<a href="https://doi.org/10.1039/d4se00400k">10.1039/d4se00400k</a>, .'
  din1505-2-1: '<span style="font-variant:small-caps;">Lichtinger, Anne</span> ; <span
    style="font-variant:small-caps;">Poller, Maximilian J.</span> ; <span style="font-variant:small-caps;">Schröder,
    Olaf</span> ; <span style="font-variant:small-caps;">Türck, Julian</span> ; <span
    style="font-variant:small-caps;">Garbe, Thomas</span> ; <span style="font-variant:small-caps;">Krahl,
    Jürgen</span> ; <span style="font-variant:small-caps;">Jakob, Markus</span> ;
    <span style="font-variant:small-caps;">Albert, Jakob</span>: Thermo-oxidative
    aging of linear and branched alcohols as stability criterion for their use as
    e-fuels. In: <i>  Sustainable energy &#38; fuels : interdisciplinary research
    for the development of sustainable energy technologies </i> Bd. 8. Cambridge ,
    Royal Society of Chemistry (RSC) (2024), Nr. 15, S. 3329–3340'
  havard: 'A. Lichtinger, M.J. Poller, O. Schröder, J. Türck, T. Garbe, J. Krahl,
    M. Jakob, J. Albert, Thermo-oxidative aging of linear and branched alcohols as
    stability criterion for their use as e-fuels,   Sustainable Energy &#38; Fuels :
    Interdisciplinary Research for the Development of Sustainable Energy Technologies
    . 8 (2024) 3329–3340.'
  ieee: 'A. Lichtinger <i>et al.</i>, “Thermo-oxidative aging of linear and branched
    alcohols as stability criterion for their use as e-fuels,” <i>  Sustainable energy
    &#38; fuels : interdisciplinary research for the development of sustainable energy
    technologies </i>, vol. 8, no. 15, pp. 3329–3340, 2024, doi: <a href="https://doi.org/10.1039/d4se00400k">10.1039/d4se00400k</a>.'
  mla: 'Lichtinger, Anne, et al. “Thermo-Oxidative Aging of Linear and Branched Alcohols
    as Stability Criterion for Their Use as e-Fuels.” <i>  Sustainable Energy &#38;
    Fuels : Interdisciplinary Research for the Development of Sustainable Energy Technologies
    </i>, vol. 8, no. 15, 2024, pp. 3329–40, <a href="https://doi.org/10.1039/d4se00400k">https://doi.org/10.1039/d4se00400k</a>.'
  short: 'A. Lichtinger, M.J. Poller, O. Schröder, J. Türck, T. Garbe, J. Krahl, M.
    Jakob, J. Albert,   Sustainable Energy &#38; Fuels : Interdisciplinary Research
    for the Development of Sustainable Energy Technologies  8 (2024) 3329–3340.'
  ufg: '<b>Lichtinger, Anne u. a.</b>: Thermo-oxidative aging of linear and branched
    alcohols as stability criterion for their use as e-fuels, in: <i>  Sustainable
    energy &#38; fuels : interdisciplinary research for the development of sustainable
    energy technologies </i> 8 (2024), H. 15,  S. 3329–3340.'
  van: 'Lichtinger A, Poller MJ, Schröder O, Türck J, Garbe T, Krahl J, et al. Thermo-oxidative
    aging of linear and branched alcohols as stability criterion for their use as
    e-fuels.   Sustainable energy &#38; fuels : interdisciplinary research for the
    development of sustainable energy technologies . 2024;8(15):3329–40.'
date_created: 2025-04-23T12:27:18Z
date_updated: 2025-06-25T13:00:39Z
department:
- _id: DEP1408
doi: 10.1039/d4se00400k
external_id:
  isi:
  - '001253422700001'
intvolume: '         8'
isi: '1'
issue: '15'
keyword:
- OXIDATION
- 1-OCTANOL
- PERFORMANCE
- CATALYSTS
- KINETICS
- ACID
language:
- iso: eng
page: 3329-3340
place: 'Cambridge '
publication: '  Sustainable energy & fuels : interdisciplinary research for the development
  of sustainable energy technologies '
publication_identifier:
  issn:
  - 2398-4902
publication_status: published
publisher: Royal Society of Chemistry (RSC)
status: public
title: Thermo-oxidative aging of linear and branched alcohols as stability criterion
  for their use as e-fuels
type: scientific_journal_article
user_id: '83781'
volume: 8
year: '2024'
...
---
_id: '12984'
abstract:
- lang: eng
  text: "Background\r\nPseudoxanthoma elasticum (PXE) is a rare hereditary disorder
    characterized by late onset and progressive calcification of elastic fibers in
    skin, eyes and the cardiovascular system, exemplifying a model for conditions
    characterized by soft tissue calcification.\r\nObjective\r\nThe aim of our study
    was to characterize cellular inorganic pyrophosphate (PPi) homeostasis in PXE.\r\nMethods\r\nGene
    expression of PPi metabolizing enzymes was determined by quantitative real-time
    PCR after incubation up to 21 days with or without addition of Na2HPO4. Extracellular
    and cytosolic PPi concentrations were measured by enzyme-linked bioluminescence
    assay. ALP and ENPP1 activity was determined spectrophotometrically. We further
    established a human cell culture model suitable for investigating PXE and related
    disorders without addition of artificial calcification triggers.\r\nResults\r\nIndependently
    of the experimental conditions, PXE fibroblasts revealed a higher degree of matrix
    calcification. We observed that matrix calcification was associated with altered
    gene expression of PPi metabolizing enzymes in PXE fibroblasts. In this context,
    PXE fibroblasts exhibited significantly higher expression of ALP and OPN and reduced
    mRNA expression and activity of ENPP1. Here, for the first time cytosolic and
    extracellular PPi levels were shown to be strongly reduced in PXE fibroblasts.
    We further showed that PPi concentration in bovine and human sera additives had
    a strong impact on matrix calcification. In a last experimental line, we demonstrated
    that addition of PPi analogs reduced matrix calcification of PXE fibroblasts most
    likely by reducing ALP and OPN mRNA expression, restoring ENPP1 activity and subsequently
    elevating PPi concentrations.\r\nConclusion\r\nThe results of our study along
    with recent findings point to the essential role of PPi as the central regulatory
    metabolites preventing matrix calcification in PXE. But what remains to be determined
    is the underlying molecular mechanism leading to depletion of PPi in PXE. We further
    suggest that supplementation of PPi analogs might counteract pathological calcification
    in PXE and related disorders."
author:
- first_name: Mareike
  full_name: Dabisch-Ruthe, Mareike
  id: '66516'
  last_name: Dabisch-Ruthe
  orcid: https://orcid.org/0009-0008-7644-0826
- first_name: Patricia
  full_name: Kuzaj, Patricia
  last_name: Kuzaj
- first_name: Christian
  full_name: Götting, Christian
  last_name: Götting
- first_name: Cornelius
  full_name: Knabbe, Cornelius
  last_name: Knabbe
- first_name: Doris
  full_name: Hendig, Doris
  last_name: Hendig
citation:
  ama: Dabisch-Ruthe M, Kuzaj P, Götting C, Knabbe C, Hendig D. Pyrophosphates as
    a major inhibitor of matrix calcification in Pseudoxanthoma elasticum. <i>Journal
    of Dermatological Science</i>. 2014;75(2):109-120. doi:<a href="https://doi.org/10.1016/j.jdermsci.2014.04.015">10.1016/j.jdermsci.2014.04.015</a>
  apa: Dabisch-Ruthe, M., Kuzaj, P., Götting, C., Knabbe, C., &#38; Hendig, D. (2014).
    Pyrophosphates as a major inhibitor of matrix calcification in Pseudoxanthoma
    elasticum. <i>Journal of Dermatological Science</i>, <i>75</i>(2), 109–120. <a
    href="https://doi.org/10.1016/j.jdermsci.2014.04.015">https://doi.org/10.1016/j.jdermsci.2014.04.015</a>
  bjps: <b>Dabisch-Ruthe M <i>et al.</i></b> (2014) Pyrophosphates as a Major Inhibitor
    of Matrix Calcification in Pseudoxanthoma Elasticum. <i>Journal of Dermatological
    Science</i> <b>75</b>, 109–120.
  chicago: 'Dabisch-Ruthe, Mareike, Patricia Kuzaj, Christian Götting, Cornelius Knabbe,
    and Doris Hendig. “Pyrophosphates as a Major Inhibitor of Matrix Calcification
    in Pseudoxanthoma Elasticum.” <i>Journal of Dermatological Science</i> 75, no.
    2 (2014): 109–20. <a href="https://doi.org/10.1016/j.jdermsci.2014.04.015">https://doi.org/10.1016/j.jdermsci.2014.04.015</a>.'
  chicago-de: 'Dabisch-Ruthe, Mareike, Patricia Kuzaj, Christian Götting, Cornelius
    Knabbe und Doris Hendig. 2014. Pyrophosphates as a major inhibitor of matrix calcification
    in Pseudoxanthoma elasticum. <i>Journal of Dermatological Science</i> 75, Nr.
    2: 109–120. doi:<a href="https://doi.org/10.1016/j.jdermsci.2014.04.015">10.1016/j.jdermsci.2014.04.015</a>,
    .'
  din1505-2-1: '<span style="font-variant:small-caps;">Dabisch-Ruthe, Mareike</span>
    ; <span style="font-variant:small-caps;">Kuzaj, Patricia</span> ; <span style="font-variant:small-caps;">Götting,
    Christian</span> ; <span style="font-variant:small-caps;">Knabbe, Cornelius</span>
    ; <span style="font-variant:small-caps;">Hendig, Doris</span>: Pyrophosphates
    as a major inhibitor of matrix calcification in Pseudoxanthoma elasticum. In:
    <i>Journal of Dermatological Science</i> Bd. 75. Amsterdam, Elsevier  (2014),
    Nr. 2, S. 109–120'
  havard: M. Dabisch-Ruthe, P. Kuzaj, C. Götting, C. Knabbe, D. Hendig, Pyrophosphates
    as a major inhibitor of matrix calcification in Pseudoxanthoma elasticum, Journal
    of Dermatological Science. 75 (2014) 109–120.
  ieee: 'M. Dabisch-Ruthe, P. Kuzaj, C. Götting, C. Knabbe, and D. Hendig, “Pyrophosphates
    as a major inhibitor of matrix calcification in Pseudoxanthoma elasticum,” <i>Journal
    of Dermatological Science</i>, vol. 75, no. 2, pp. 109–120, 2014, doi: <a href="https://doi.org/10.1016/j.jdermsci.2014.04.015">10.1016/j.jdermsci.2014.04.015</a>.'
  mla: Dabisch-Ruthe, Mareike, et al. “Pyrophosphates as a Major Inhibitor of Matrix
    Calcification in Pseudoxanthoma Elasticum.” <i>Journal of Dermatological Science</i>,
    vol. 75, no. 2, 2014, pp. 109–20, <a href="https://doi.org/10.1016/j.jdermsci.2014.04.015">https://doi.org/10.1016/j.jdermsci.2014.04.015</a>.
  short: M. Dabisch-Ruthe, P. Kuzaj, C. Götting, C. Knabbe, D. Hendig, Journal of
    Dermatological Science 75 (2014) 109–120.
  ufg: '<b>Dabisch-Ruthe, Mareike u. a.</b>: Pyrophosphates as a major inhibitor of
    matrix calcification in Pseudoxanthoma elasticum, in: <i>Journal of Dermatological
    Science</i> 75 (2014), H. 2,  S. 109–120.'
  van: Dabisch-Ruthe M, Kuzaj P, Götting C, Knabbe C, Hendig D. Pyrophosphates as
    a major inhibitor of matrix calcification in Pseudoxanthoma elasticum. Journal
    of Dermatological Science. 2014;75(2):109–20.
date_created: 2025-06-17T06:52:59Z
date_updated: 2025-06-17T13:48:41Z
department:
- _id: DEP4010
doi: 10.1016/j.jdermsci.2014.04.015
intvolume: '        75'
issue: '2'
keyword:
- Pseudoxanthoma elasticum
- Calcification
- Pyrophosphate
- Bisphosphonate
- ABCC6
- Tissue nonspecific alkaline phosphate
- Ectonucleotide pyrophosphatase 1
language:
- iso: eng
page: 109-120
place: Amsterdam
publication: Journal of Dermatological Science
publication_identifier:
  eissn:
  - 1873-569X
  issn:
  - 0923-1811
publication_status: published
publisher: 'Elsevier '
quality_controlled: '1'
status: public
title: Pyrophosphates as a major inhibitor of matrix calcification in Pseudoxanthoma
  elasticum
type: scientific_journal_article
user_id: '83781'
volume: 75
year: '2014'
...
---
_id: '12985'
abstract:
- lang: eng
  text: "Objectives\r\nPseudoxanthoma elasticum (PXE) is a rare hereditary disorder
    characterized by progressive calcification and fragmentation of elastic fibers.
    Because of the great clinical variability between PXE patients the involvement
    of modifier genes was recently suggested. Therefore, we investigated the association
    of single nucleotide variants (SNVs) in selected candidate genes known to regulate
    cellular pyrophosphate metabolism.\r\nDesign and methods\r\nWe used RLFP analyses
    to evaluate the distribution of SNVs in alkaline phosphatase (ALP), ectonucleotide
    pyrophosphatase 1 (ENPP1) and ankylosis (ANKH) in DNA samples from 190 German
    PXE patients and 190 age- and sex-matched healthy controls. Statistical analyses
    were performed using Fisher exact test and Bonferroni correction.\r\nResults\r\nThe
    screening revealed three different SNVs in three genes, which were associated
    with PXE. The SNV c.1190-65C > A (rs1780329, minor allele frequency (MAF) patients:
    0.17; controls: 0.11; P = 0.04) in the ALP gene was significantly more frequent
    in PXE patients. Furthermore, PXE was highly associated with ANKH p.A98A genotype
    TT (P = 0.0012), although the MAF was not different between patients and controls.
    After correction for multiple testing according to the Bonferroni method, one
    SNV in the ENPP1 gene (c.313 + 9G > T, rs7773477) remained significantly associated
    with PXE with significantly higher MAF values in the patient cohort (MAF: 0.04
    vs. 0.00; P = 0.0024) and a high association with PXE susceptibility (OR 27.96).\r\nConclusion\r\nPolymorphisms
    in ALP, ENPP1 and ANKH are important genetic risk factors contributing to PXE."
author:
- first_name: Mareike
  full_name: Dabisch-Ruthe, Mareike
  id: '66516'
  last_name: Dabisch-Ruthe
  orcid: https://orcid.org/0009-0008-7644-0826
- first_name: Alexander
  full_name: Brock, Alexander
  last_name: Brock
- first_name: Patricia
  full_name: Kuzaj, Patricia
  last_name: Kuzaj
- first_name: Peter
  full_name: Charbel Issa, Peter
  last_name: Charbel Issa
- first_name: Christiane
  full_name: Szliska, Christiane
  last_name: Szliska
- first_name: Cornelius
  full_name: Knabbe, Cornelius
  last_name: Knabbe
- first_name: Doris
  full_name: Hendig, Doris
  last_name: Hendig
citation:
  ama: Dabisch-Ruthe M, Brock A, Kuzaj P, et al. Variants in genes encoding pyrophosphate
    metabolizing enzymes are associated with Pseudoxanthoma elasticum. <i>Clinical
    Biochemistry</i>. 2014;47(15):60-67. doi:<a href="https://doi.org/10.1016/j.clinbiochem.2014.07.003">10.1016/j.clinbiochem.2014.07.003</a>
  apa: Dabisch-Ruthe, M., Brock, A., Kuzaj, P., Charbel Issa, P., Szliska, C., Knabbe,
    C., &#38; Hendig, D. (2014). Variants in genes encoding pyrophosphate metabolizing
    enzymes are associated with Pseudoxanthoma elasticum. <i>Clinical Biochemistry</i>,
    <i>47</i>(15), 60–67. <a href="https://doi.org/10.1016/j.clinbiochem.2014.07.003">https://doi.org/10.1016/j.clinbiochem.2014.07.003</a>
  bjps: <b>Dabisch-Ruthe M <i>et al.</i></b> (2014) Variants in Genes Encoding Pyrophosphate
    Metabolizing Enzymes Are Associated with Pseudoxanthoma Elasticum. <i>Clinical
    Biochemistry</i> <b>47</b>, 60–67.
  chicago: 'Dabisch-Ruthe, Mareike, Alexander Brock, Patricia Kuzaj, Peter Charbel
    Issa, Christiane Szliska, Cornelius Knabbe, and Doris Hendig. “Variants in Genes
    Encoding Pyrophosphate Metabolizing Enzymes Are Associated with Pseudoxanthoma
    Elasticum.” <i>Clinical Biochemistry</i> 47, no. 15 (2014): 60–67. <a href="https://doi.org/10.1016/j.clinbiochem.2014.07.003">https://doi.org/10.1016/j.clinbiochem.2014.07.003</a>.'
  chicago-de: 'Dabisch-Ruthe, Mareike, Alexander Brock, Patricia Kuzaj, Peter Charbel
    Issa, Christiane Szliska, Cornelius Knabbe und Doris Hendig. 2014. Variants in
    genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma
    elasticum. <i>Clinical Biochemistry</i> 47, Nr. 15: 60–67. doi:<a href="https://doi.org/10.1016/j.clinbiochem.2014.07.003">10.1016/j.clinbiochem.2014.07.003</a>,
    .'
  din1505-2-1: '<span style="font-variant:small-caps;">Dabisch-Ruthe, Mareike</span>
    ; <span style="font-variant:small-caps;">Brock, Alexander</span> ; <span style="font-variant:small-caps;">Kuzaj,
    Patricia</span> ; <span style="font-variant:small-caps;">Charbel Issa, Peter</span>
    ; <span style="font-variant:small-caps;">Szliska, Christiane</span> ; <span style="font-variant:small-caps;">Knabbe,
    Cornelius</span> ; <span style="font-variant:small-caps;">Hendig, Doris</span>:
    Variants in genes encoding pyrophosphate metabolizing enzymes are associated with
    Pseudoxanthoma elasticum. In: <i>Clinical Biochemistry</i> Bd. 47. Amsterdam,
    Elsevier (2014), Nr. 15, S. 60–67'
  havard: M. Dabisch-Ruthe, A. Brock, P. Kuzaj, P. Charbel Issa, C. Szliska, C. Knabbe,
    D. Hendig, Variants in genes encoding pyrophosphate metabolizing enzymes are associated
    with Pseudoxanthoma elasticum, Clinical Biochemistry. 47 (2014) 60–67.
  ieee: 'M. Dabisch-Ruthe <i>et al.</i>, “Variants in genes encoding pyrophosphate
    metabolizing enzymes are associated with Pseudoxanthoma elasticum,” <i>Clinical
    Biochemistry</i>, vol. 47, no. 15, pp. 60–67, 2014, doi: <a href="https://doi.org/10.1016/j.clinbiochem.2014.07.003">10.1016/j.clinbiochem.2014.07.003</a>.'
  mla: Dabisch-Ruthe, Mareike, et al. “Variants in Genes Encoding Pyrophosphate Metabolizing
    Enzymes Are Associated with Pseudoxanthoma Elasticum.” <i>Clinical Biochemistry</i>,
    vol. 47, no. 15, 2014, pp. 60–67, <a href="https://doi.org/10.1016/j.clinbiochem.2014.07.003">https://doi.org/10.1016/j.clinbiochem.2014.07.003</a>.
  short: M. Dabisch-Ruthe, A. Brock, P. Kuzaj, P. Charbel Issa, C. Szliska, C. Knabbe,
    D. Hendig, Clinical Biochemistry 47 (2014) 60–67.
  ufg: '<b>Dabisch-Ruthe, Mareike u. a.</b>: Variants in genes encoding pyrophosphate
    metabolizing enzymes are associated with Pseudoxanthoma elasticum, in: <i>Clinical
    Biochemistry</i> 47 (2014), H. 15,  S. 60–67.'
  van: Dabisch-Ruthe M, Brock A, Kuzaj P, Charbel Issa P, Szliska C, Knabbe C, et
    al. Variants in genes encoding pyrophosphate metabolizing enzymes are associated
    with Pseudoxanthoma elasticum. Clinical Biochemistry. 2014;47(15):60–7.
date_created: 2025-06-17T06:53:30Z
date_updated: 2025-06-17T13:48:52Z
department:
- _id: DEP4010
doi: 10.1016/j.clinbiochem.2014.07.003
intvolume: '        47'
issue: '15'
keyword:
- Pseudoxanthoma elasticum
- Calcification
- Tissue nonspecific alkaline phosphatase
- Ectonucleotide pyrophosphatase 1
- Ankylosis
language:
- iso: eng
page: 60-67
place: Amsterdam
publication: Clinical Biochemistry
publication_identifier:
  eissn:
  - 1873-2933
  issn:
  - 0009-9120
publication_status: published
publisher: Elsevier
status: public
title: Variants in genes encoding pyrophosphate metabolizing enzymes are associated
  with Pseudoxanthoma elasticum
type: scientific_journal_article
user_id: '83781'
volume: 47
year: '2014'
...
