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  1. Book ; Thesis: Todesursachen bei Ungeborenen, Neugeborenen, Säuglingen, Kleinkindern, Kindern und Jugendlichen von 2008 bis 2020

    Knobelsdorff, Kerstin von / Santer, René / Püschel, Klaus

    2020  

    Institution Universität Hamburg
    Universität Hamburg / Medizinische Fakultät
    Author's details vorgelegt von: Kerstin von Knobelsdorff ; Prüfungsausschuss, der Vorsitzende: Prof. Dr. René Santer, Prüfungsausschuss, zweiter Gutachter: Prof. Dr. Klaus Püschel
    Language German
    Size 71 Blätter, Illustrationen, Diagramme
    Publishing place Hamburg
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Dissertation, Universität Hamburg, 2021
    Note Literaturverzeichnis: Seite 62. - Dissertation angenommen von der Medizinischen Fakultät der Universität Hamburg
    HBZ-ID HT021370275
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

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    2022 E 564 order for loan Magazin

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  2. Article ; Online: Dominant-negative effect of lactase missense variants: hetero-complex assembly with the wild-type enzyme impairs intracellular trafficking and digestive function.

    Wanes, Dalanda / Stellbrinck, Tammy / Marten, Lara M / Santer, René / Naim, Hassan Y

    Gut

    2023  

    Language English
    Publishing date 2023-12-13
    Publishing country England
    Document type Letter
    ZDB-ID 80128-8
    ISSN 1468-3288 ; 0017-5749
    ISSN (online) 1468-3288
    ISSN 0017-5749
    DOI 10.1136/gutjnl-2023-331370
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  3. Article: Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors.

    Murko, Simona / Peschka, Manuela / Tsiakas, Konstantinos / Schulz-Jürgensen, Sebastian / Herden, Uta / Santer, René

    Molecular genetics and metabolism reports

    2023  Volume 35, Page(s) 100977

    Abstract: We report on liver transplantation in two patients with GSD Ib on treatment with empagliflozin. The use of this SGLT2 inhibitor resulted in a marked decrease of 1,5-anhydroglucitol which has an important role in the development of neutropenia in this ... ...

    Abstract We report on liver transplantation in two patients with GSD Ib on treatment with empagliflozin. The use of this SGLT2 inhibitor resulted in a marked decrease of 1,5-anhydroglucitol which has an important role in the development of neutropenia in this condition. As intended, this caused a significant rise of neutrophil numbers. Liver transplantation alone did not produce the desired effect and our observation argues for continuing SGLT2 inhibitor treatment after transplantation.
    Language English
    Publishing date 2023-05-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2023.100977
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  4. Article ; Online: The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes.

    Langer, Sara / Waterstradt, Rica / Hillebrand, Georg / Santer, René / Baltrusch, Simone

    Diabetologia

    2021  Volume 64, Issue 12, Page(s) 2687–2700

    Abstract: Aims/hypothesis: The mammalian enzyme glucokinase (GK), expressed predominantly in liver and pancreas, plays an essential role in carbohydrate metabolism. Monogenic GK disorders emphasise the role of GK in determining the blood glucose set point.: ... ...

    Abstract Aims/hypothesis: The mammalian enzyme glucokinase (GK), expressed predominantly in liver and pancreas, plays an essential role in carbohydrate metabolism. Monogenic GK disorders emphasise the role of GK in determining the blood glucose set point.
    Methods: A family with congenital hyperinsulinism (CHI) was examined for GCK gene variants by Sanger sequencing. A combined approach, involving kinetic analysis (also using GK activators and inhibitors), intracellular translocation assays, insulin secretion measurements and structural modelling, was used to investigate the novel variant compared with known variants.
    Results: We report on the novel gain-of-function GCK variant p.Val455Leu (V455L), inherited as an autosomal dominant trait in a German family with CHI and concomitant obesity (fasting blood glucose 2.1 mmol/l, BMI 45.0 kg/m
    Conclusion/interpretation: We provide new knowledge on the structure-function relationship of GK, with special emphasis on enzyme activation, potentially yielding fresh strategic insights into breaking the vicious circle of fluctuating blood glucose levels and the attendant risk of long-lasting metabolic changes in both CHI and type 2 diabetes.
    MeSH term(s) Allosteric Regulation/genetics ; Animals ; Diabetes Mellitus, Type 2/metabolism ; Female ; Glucokinase/genetics ; Glucose/metabolism ; Hyperinsulinism/genetics ; Kinetics ; Male ; Mammals/metabolism ; Weight Gain
    Chemical Substances Glucokinase (EC 2.7.1.2) ; Glucose (IY9XDZ35W2)
    Language English
    Publishing date 2021-09-16
    Publishing country Germany
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1694-9
    ISSN 1432-0428 ; 0012-186X
    ISSN (online) 1432-0428
    ISSN 0012-186X
    DOI 10.1007/s00125-021-05553-w
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 279: Show issues Location:
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  5. Article ; Online: Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive.

    Marten, Lara M / Wanes, Dalanda / Stellbrinck, Tammy / Santer, René / Naim, Hassan Y

    Biochimica et biophysica acta. Molecular basis of disease

    2022  Volume 1868, Issue 4, Page(s) 166338

    Abstract: Patients with the rare autosomal recessive disorder congenital lactase deficiency (CLD) present with severe, potentially life-threatening symptoms shortly after birth. Several variants have been characterized within the gene for lactase-phlorizin ... ...

    Abstract Patients with the rare autosomal recessive disorder congenital lactase deficiency (CLD) present with severe, potentially life-threatening symptoms shortly after birth. Several variants have been characterized within the gene for lactase-phlorizin hydrolase (LCT) that are associated with CLD. Here, we analyze at the biochemical and cellular levels LCT mutants harboring the genetic variants p.Y1390*, p.E1612*, p.S1150Pfs*19, p.S1121L, p.R1587H, and p.S688P. Our data unequivocally demonstrate that these mutants are absolutely transport incompetent, some of which are readily degraded, and are enzymatically inactive. The current study contributes to and expands our understanding on the pathogenesis of CLD at the molecular level.
    MeSH term(s) Animals ; COS Cells ; Carbohydrate Metabolism, Inborn Errors/genetics ; Carbohydrate Metabolism, Inborn Errors/pathology ; Chlorocebus aethiops ; Humans ; Lactase/deficiency ; Lactase/genetics ; Lactase-Phlorizin Hydrolase/chemistry ; Lactase-Phlorizin Hydrolase/genetics ; Lactase-Phlorizin Hydrolase/metabolism ; Mutagenesis, Site-Directed ; Mutation, Missense ; Protein Folding ; Protein Transport
    Chemical Substances Lactase (EC 3.2.1.108) ; Lactase-Phlorizin Hydrolase (EC 3.2.1.62)
    Language English
    Publishing date 2022-01-08
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 60-7
    ISSN 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
    ISSN 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    DOI 10.1016/j.bbadis.2022.166338
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    Uc I Zs.247: Show issues Location:
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  6. Book ; Thesis: Die alkalische Phosphatase in fetalen Geweben und ihre Bedeutung fuer die praenatale Diagnostik der Hypophosphatasie

    Santer, René

    1982  

    Size 92 S. : Ill.
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Muenchen, Univ., Diss., 1982
    HBZ-ID HT002608946
    Database Catalogue ZB MED Medicine, Health

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  7. Article: Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany.

    Murko, Simona / Aseman, Asra Dadkhah / Reinhardt, Friederike / Gramer, Gwendolyn / Okun, Jürgen Günther / Mütze, Ulrike / Santer, René

    JIMD reports

    2022  Volume 64, Issue 1, Page(s) 114–120

    Abstract: Newborn screening (NBS) for isovaleric acidemia (IVA) is performed by flow injection tandem mass spectrometry quantifying C5 carnitines (C5). Isovalerylcarnitine, however, is isomeric with pivaloylcarnitine which can be present in blood due to maternal ... ...

    Abstract Newborn screening (NBS) for isovaleric acidemia (IVA) is performed by flow injection tandem mass spectrometry quantifying C5 carnitines (C5). Isovalerylcarnitine, however, is isomeric with pivaloylcarnitine which can be present in blood due to maternal use of pivaloylester-containing antibiotics, available in Germany since late 2016. During a 36-month period (January 19-December 21), all newborns screened in Hamburg with a C5 above cutoff (NeoGram®: 0.50 μmol/L or Neobase®2: 0.45 μmol/L) were included in the study. As a second-tier test, a simple ultra performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) method was developed to differentiate the C5 isomers pivaloyl-, 2-methylbutyryl-, isovaleryl-, and valerylcarnitine. Out of 156 772 newborns tested, one turned out to have genetically proven IVA while 99 were false positive (C5: 0.5-8.2 μmol/L) due to the presence of pivaloylcarnitine. These cases have increased year by year and show local clusters. Retrospective analysis of another 39 cases from 287 206 neonates tested at the NBS center in Heidelberg with C5 elevation (0.9-10.6 μmol/L) but clinical and biochemical exclusion of IVA yielded evidence of pivaloylcarnitine in all cases. Inclusion of a second-tier test into NBS significantly reduces the high and increasing false-positive rate of IVA screening. This avoids further diagnostic steps, prevents unnecessary stress and anxiety of parents in a remarkably high number of cases. If Hamburg data of 2021 are extrapolated to all of Germany, one can assume around 800 (1‰) false-positive cases in comparison to an average of two classic IVA cases per year. Unless licensing of pivaloylester-containing drugs for use during pregnancy is reconsidered, a second-tier test for C5 determination is indispensable.
    Language English
    Publishing date 2022-10-28
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2672872-2
    ISSN 2192-8312 ; 2192-8304
    ISSN (online) 2192-8312
    ISSN 2192-8304
    DOI 10.1002/jmd2.12345
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  8. Article: Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis-A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients.

    Ammer, Luise Sophie / Muschol, Nicole Maria / Santer, René / Lang, Annika / Breyer, Sandra Rafaela / Sasu, Phillip Brenya / Petzoldt, Martin / Dohrmann, Thorsten

    Journal of clinical medicine

    2022  Volume 11, Issue 13

    Abstract: Mucolipidosis (ML) type II, intermediate, and III are lysosomal storage disorders with progressive multiorgan manifestations predisposing patients to a high risk of perioperative morbidity. The aims of the study were to systematically assess disease ... ...

    Abstract Mucolipidosis (ML) type II, intermediate, and III are lysosomal storage disorders with progressive multiorgan manifestations predisposing patients to a high risk of perioperative morbidity. The aims of the study were to systematically assess disease manifestations relevant to anaesthesia as well as anaesthesia-related complications. This retrospective study includes ML patients who underwent anaesthesia in two centres between 2008 and 2022. We reviewed patients' demographics, medical history, disease manifestations, as well as procedure- and outcome-related data. A total of 12 patients (7 MLII, 2 ML intermediate, 3 MLIII) underwent 44 anaesthesia procedures (per patient: median 3, range 1-11). The median age was 3.3 years (range 0.1-19.1). At least one complication occurred in 27.3% of the anaesthesia procedures. The vast majority of complications (94%) occurred in children with MLII and ML intermediate. A predicted difficult airway was found in 100% and 80% of the MLII and ML intermediate patients, respectively. Accordingly, most complications (59%) occurred during the induction of anaesthesia. Altogether, respiratory complications were the most frequent (18%), followed by difficult airway management (14%). The risk for anaesthesia-related complications is alarmingly high in patients with ML, particularly in those with MLII and ML intermediate. Multidisciplinary risk-benefit analysis and thoughtful anaesthesia planning are crucial in these patients.
    Language English
    Publishing date 2022-06-24
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm11133650
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  9. Article ; Online: Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.

    van der Ven, Amelie T / Cabrera-Orefice, Alfredo / Wente, Isabell / Feichtinger, René G / Tsiakas, Konstantinos / Weiss, Deike / Bierhals, Tatjana / Scholle, Leila / Prokisch, Holger / Kopajtich, Robert / Santer, René / Mayr, Johannes A / Hempel, Maja / Wittig, Ilka

    Molecular genetics and metabolism

    2023  Volume 140, Issue 3, Page(s) 107675

    Abstract: Recessive variants in NDUFAF3 are a known cause of complex I (CI)-related mitochondrial disorders (MDs). The seven patients reported to date exhibited severe neurologic symptoms and lactic acidosis, followed by a fatal course and death during infancy in ... ...

    Abstract Recessive variants in NDUFAF3 are a known cause of complex I (CI)-related mitochondrial disorders (MDs). The seven patients reported to date exhibited severe neurologic symptoms and lactic acidosis, followed by a fatal course and death during infancy in most cases. We present a 10-year-old patient with a neurodevelopmental disorder, progressive exercise intolerance, dystonia, basal ganglia abnormalities, and elevated lactate concentration in blood. Trio-exome sequencing revealed compound-heterozygosity for a pathogenic splice-site and a likely pathogenic missense variant in NDUFAF3. Spectrophotometric analysis of fibroblast-derived mitochondria demonstrated a relatively mild reduction of CI activity. Complexome analyses revealed severely reduced NDUFAF3 as well as CI in patient fibroblasts. Accumulation of early sub-assemblies of the membrane arm of CI associated with mitochondrial complex I intermediate assembly (MCIA) complex was observed. The most striking additional findings were both the unusual occurrence of free monomeric CI holding MCIA and other assembly factors. Here we discuss our patient in context of genotype, phenotype and metabolite data from previously reported NDUFAF3 cases. With the atypical presentation of our patient, we provide further insight into the phenotypic spectrum of NDUFAF3-related MDs. Complexome analysis in our patient confirms the previously defined role of NDUFAF3 within CI biogenesis, yet adds new aspects regarding the correct timing of both the association of soluble and membrane arm modules and CI-maturation as well as respiratory supercomplex formation.
    MeSH term(s) Humans ; Child ; Mitochondrial Diseases/genetics ; Mitochondria/genetics ; Mitochondria/metabolism ; Exome Sequencing ; Acidosis, Lactic/genetics ; Phenotype ; Electron Transport Complex I/genetics ; Electron Transport Complex I/metabolism ; Mitochondrial Proteins/genetics ; Mitochondrial Proteins/metabolism
    Chemical Substances Electron Transport Complex I (EC 7.1.1.2) ; NDUFAF3 protein, human ; Mitochondrial Proteins
    Language English
    Publishing date 2023-08-04
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1418518-0
    ISSN 1096-7206 ; 1096-7192
    ISSN (online) 1096-7206
    ISSN 1096-7192
    DOI 10.1016/j.ymgme.2023.107675
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 617: Show issues Location:
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  10. Article: Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency.

    Marten, Lara M / Brinkert, Florian / Smith, Desirée E C / Prokisch, Holger / Hempel, Maja / Santer, René

    Molecular genetics and metabolism reports

    2020  Volume 25, Page(s) 100681

    Abstract: AARS1 deficiency belongs to the group of disorders affecting aminoacyl-tRNA synthetases. To date, AARS1 deficiency has only been linked to neurologic disorders. We report a 6-year-old girl with microcephaly and developmental delay who presented with ... ...

    Abstract AARS1 deficiency belongs to the group of disorders affecting aminoacyl-tRNA synthetases. To date, AARS1 deficiency has only been linked to neurologic disorders. We report a 6-year-old girl with microcephaly and developmental delay who presented with repeated episodes of acute liver failure. Whole-exome sequencing revealed compound heterozygosity for two missense variants within the
    Language English
    Publishing date 2020-11-22
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2020.100681
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