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  1. Article: Unklare Bewusstseinsstörung? Ammoniak messen! Interview mit Prof. Dr. med. Johannes Häberle, Kinderspital Zürich

    Häberle, Johannes

    Ars medici

    2017  Volume 107, Issue Congr. Selection: Kardiologie, Page(s) 164

    Language German
    Document type Article
    ZDB-ID 124118-7
    ISSN 0004-2897 ; 2235-5138
    Database Current Contents Medicine

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    Zs.B 69: Show issues Location:
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  2. Article: Unklare Bewusstseinsstörung? Ammoniak messen! Interview mit Prof. Dr. med. Johannes Häberle, Kinderspital Zürich

    Häberle, Johannes

    Ars medici

    2017  Volume 107, Issue 4, Page(s) 164

    Language German
    Document type Article
    ZDB-ID 124118-7
    ISSN 0004-2897 ; 2235-5138
    Database Current Contents Medicine

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  3. Article ; Online: Suitability of nitisinone for alkaptonuria.

    Häberle, Johannes

    The lancet. Diabetes & endocrinology

    2020  Volume 8, Issue 9, Page(s) 732–733

    MeSH term(s) Alkaptonuria/drug therapy ; Alkaptonuria/genetics ; Alkaptonuria/metabolism ; Cyclohexanones/therapeutic use ; Enzyme Inhibitors/therapeutic use ; Humans ; Nitrobenzoates/therapeutic use
    Chemical Substances Cyclohexanones ; Enzyme Inhibitors ; Nitrobenzoates ; nitisinone (K5BN214699)
    Language English
    Publishing date 2020-08-18
    Publishing country England
    Document type Journal Article ; Portrait ; Review
    ISSN 2213-8595
    ISSN (online) 2213-8595
    DOI 10.1016/S2213-8587(20)30222-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Primary hyperammonaemia: Current diagnostic and therapeutic strategies.

    Häberle, Johannes

    Journal of mother and child

    2020  Volume 24, Issue 2, Page(s) 32–38

    Abstract: Primary hyperammonaemia is a term to describe an elevation of ammonia in blood or plasma due to a defect within the urea cycle, which is the pathway responsible for ammonia detoxification and arginine biosynthesis. Urea cycle disorders (UCDs) are rare ... ...

    Abstract Primary hyperammonaemia is a term to describe an elevation of ammonia in blood or plasma due to a defect within the urea cycle, which is the pathway responsible for ammonia detoxification and arginine biosynthesis. Urea cycle disorders (UCDs) are rare diseases caused by genetic defects affecting any of the six enzymes or two transporters that are directly involved in the urea cycle function.The clinical situation is variable and largely depends on the time of onset. Newborns who are often affected by hyper-ammonaemic encephalopathy carry a potential risk of severe brain damage, which may lead to death. Outside the neonatal period, symptoms are very unspecific but most often neurological (with wide variability), psychiatric and/or gastrointestinal. Early identification of patients is extremely important to start effective treatment modalities immediately. The acute management includes detoxification of ammonia, which often requires extracorporeal means such as haemodialysis, and the use of intravenous drugs that work as nitrogen scavengers. Long-term management of patients with UCDs consists of a low-protein diet, which needs to be balanced and supplemented to avoid deficiencies of essential amino acids, trace elements or vitamins and the use of nitrogen scavengers.The reader will find here a brief overview describing the most relevant aspects of the clinical management of UCDs in an attempt to raise awareness for this important group of rare diseases.
    MeSH term(s) Ammonia/blood ; Early Diagnosis ; Female ; Humans ; Hyperammonemia/complications ; Hyperammonemia/diagnosis ; Hyperammonemia/physiopathology ; Hyperammonemia/therapy ; Infant ; Infant, Newborn ; Male ; Renal Dialysis/methods ; Treatment Outcome ; Urea Cycle Disorders, Inborn/blood ; Urea Cycle Disorders, Inborn/diagnosis ; Urea Cycle Disorders, Inborn/therapy
    Chemical Substances Ammonia (7664-41-7)
    Language English
    Publishing date 2020-10-02
    Publishing country Poland
    Document type Journal Article ; Review
    ISSN 2719-535X
    ISSN (online) 2719-535X
    DOI 10.34763/jmotherandchild.20202402si.2015.000006
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.

    Kido, Jun / Makris, Georgios / Santra, Saikat / Häberle, Johannes

    Journal of inherited metabolic disease

    2024  

    Abstract: Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in SLC25A13. The clinical manifestation is very variable and comprises three types: neonatal intrahepatic cholestasis caused by citrin deficiency ( ... ...

    Abstract Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in SLC25A13. The clinical manifestation is very variable and comprises three types: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD: OMIM 605814), post-NICCD including failure to thrive and dyslipidemia caused by citrin deficiency, and adult-onset type II citrullinemia (CTLN2: OMIM 603471). Frequently, NICCD can run with a mild clinical course and manifestations may resolve in the post-NICCD. However, a subset of patients may develop CTLN2 when they become more than 18 years old, and this condition is potentially life-threatening. Since a combination of diet with low-carbohydrate and high-fat content supplemented with medium-chain triglycerides is expected to ameliorate most manifestations and to prevent the progression to CTLN2, early detection and intervention are important and may improve long-term outcome in patients. Moreover, infusion of high sugar solution and/or glycerol may be life-threatening in patients with citrin deficiency, particularly CTLN2. The disease is highly prevalent in East Asian countries but is more and more recognized as a global entity. Since newborn screening for citrin deficiency has only been introduced in a few countries, the diagnosis still mainly relies on clinical suspicion followed by genetic testing or selective metabolic screening. This paper aims at describing (1) the different stages of the disease focusing on clinical aspects; (2) the current published clinical situation in East Asia, Europe, and North America; (3) current efforts in increasing awareness by establishing management guidelines and patient registries, hereby illustrating the ongoing development of a global network for this rare disease.
    Language English
    Publishing date 2024-03-19
    Publishing country United States
    Document type Journal Article
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1002/jimd.12722
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Carglumic acid for the treatment of N-acetylglutamate synthase deficiency and acute hyperammonemia.

    Häberle, Johannes

    Expert review of endocrinology & metabolism

    2019  Volume 7, Issue 3, Page(s) 263–271

    Abstract: Carglumic acid is a structural analog and the first registered synthetic form of the naturally occurring allosteric activator of the urea cycle, N-acetylglutamate (NAG), which is the product of the enzyme NAG synthase (NAGS). Because NAG is essential for ...

    Abstract Carglumic acid is a structural analog and the first registered synthetic form of the naturally occurring allosteric activator of the urea cycle, N-acetylglutamate (NAG), which is the product of the enzyme NAG synthase (NAGS). Because NAG is essential for the function of carbamoylphosphate synthetase 1 as the first step of the urea cycle, a decreased availability of NAG due to primary or secondary defects of NAGS will affect ammonia detoxification in the urea cycle. Carglumic acid (Carbaglu®, Orphan Europe SARL, Paris, France) is approved for the acute and long-term treatment of primary defects of NAGS in Europe and the USA. In addition, it is approved in Europe for the treatment of acute hyperammonemia in patients with specific organic acidurias that can lead to NAG deficiency secondary to inhibition of NAGS. This article reviews the use of carglumic acid for both approved indications and considers the potential of this compound for acute hyperammonemias in general.
    Language English
    Publishing date 2019-02-19
    Publishing country England
    Document type Journal Article
    ISSN 1744-8417
    ISSN (online) 1744-8417
    DOI 10.1586/eem.12.17
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Commentary to Aby

    Häberle, Johannes / Nurse, James / Mochel, Fanny

    Frontline gastroenterology

    2022  Volume 13, Issue 5, Page(s) 456–457

    Language English
    Publishing date 2022-03-08
    Publishing country England
    Document type Journal Article
    ZDB-ID 2521857-8
    ISSN 2041-4137
    ISSN 2041-4137
    DOI 10.1136/flgastro-2022-102132
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Reply.

    Laemmle, Alexander / Häberle, Johannes / Willenbring, Holger

    Hepatology (Baltimore, Md.)

    2022  Volume 75, Issue 4, Page(s) 1059–1060

    Language English
    Publishing date 2022-01-26
    Publishing country United States
    Document type Letter
    ZDB-ID 604603-4
    ISSN 1527-3350 ; 0270-9139
    ISSN (online) 1527-3350
    ISSN 0270-9139
    DOI 10.1002/hep.32290
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

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    Zs.A 1660: Show issues Location:
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  9. Article ; Online: Of ammonia and orotic acid and their importance for clinical neuropediatrics.

    Häberle, Johannes

    Neuropediatrics

    2015  Volume 46, Issue 2, Page(s) 80–81

    MeSH term(s) Anemia, Megaloblastic/complications ; Epilepsy/complications ; Humans ; Male ; Metabolic Diseases/complications ; Multienzyme Complexes/deficiency ; Orotate Phosphoribosyltransferase/deficiency ; Orotic Acid/metabolism ; Orotidine-5'-Phosphate Decarboxylase/deficiency
    Chemical Substances Multienzyme Complexes ; Orotic Acid (61H4T033E5) ; Orotate Phosphoribosyltransferase (EC 2.4.2.10) ; Orotidine-5'-Phosphate Decarboxylase (EC 4.1.1.23)
    Language English
    Publishing date 2015-04
    Publishing country Germany
    Document type Comment ; Editorial
    ZDB-ID 573291-8
    ISSN 1439-1899 ; 0174-304X
    ISSN (online) 1439-1899
    ISSN 0174-304X
    DOI 10.1055/s-0035-1549161
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 728: Show issues Location:
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  10. Article: [No title information]

    Schiefersteiner, Mona / Valdec, Silvio / Häberle, Johannes / Baumhoer, Daniel / Stadlinger, Bernd

    Swiss dental journal

    2022  Volume 132, Issue 1, Page(s) 36–37

    Title translation Ausgedehnte unilaterale Osteosklerose im Unterkiefer eines Kindes Ein Fallbericht.
    Language German
    Publishing date 2022-01-06
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2754538-6
    ISSN 2296-6498
    ISSN 2296-6498
    Database MEDical Literature Analysis and Retrieval System OnLINE

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