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  1. Article: A Novel Mutation in

    Manawadu, Thivanka Vishwani / Jasinge, Eresha / Fernando, Meranthi / Gamage, Pradeep / Gunarathne, Anusha Varuni

    Indian journal of clinical biochemistry : IJCB

    2019  Volume 35, Issue 2, Page(s) 251–254

    Abstract: Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is a rare genetic disorder of ketone utilization and isoleucine catabolism caused by mutations in ... ...

    Abstract Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is a rare genetic disorder of ketone utilization and isoleucine catabolism caused by mutations in the
    Keywords covid19
    Language English
    Publishing date 2019-09-16
    Publishing country India
    Document type Case Reports
    ZDB-ID 1033583-3
    ISSN 0974-0422 ; 0970-1915
    ISSN (online) 0974-0422
    ISSN 0970-1915
    DOI 10.1007/s12291-019-00851-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2949: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.

    Jasinge, Eresha / Fernando, Mihika / Indika, Neluwa-Liyanage R / Trunzo, Roberta / Schröder, Sabine / Vidanapathirana, Dinesha Maduri / Jones, Patricia M / Jayasena, Subashini / Gunarathne, Anusha Varuni / Ratnayake, Pyara

    Laboratory medicine

    2021  Volume 53, Issue 3, Page(s) e48–e50

    Abstract: Fumaric aciduria resulting from fumarate hydratase deficiency is a rare inherited disorder of the Krebs tricarboxylic acid cycle that is characterized by neurologic manifestations, a spectrum of brain abnormalities, and the excretion of fumaric acid in ... ...

    Abstract Fumaric aciduria resulting from fumarate hydratase deficiency is a rare inherited disorder of the Krebs tricarboxylic acid cycle that is characterized by neurologic manifestations, a spectrum of brain abnormalities, and the excretion of fumaric acid in urine. We describe a 3 year old Sri Lankan boy who was referred at age 10 months with poor weight gain and hypotonia for further laboratory investigations. In addition to global developmental delay, there were noticeable dysmorphic features with a prominent forehead, low-set ears, micrognathia, and hypertelorism with persistent neutropenia. Urine organic acid assay revealed a massive elevation of fumaric acid on 2 occasions. Molecular analysis revealed a homozygous likely pathogenic missense variant, NM000143.3:c.1048C>T p. (Arg350Trp), in the FH gene, confirming the biochemical diagnosis. Our patient was the first patient in Sri Lanka molecularly diagnosed with fumaric aciduria. This case study highlights the importance of performing organic acid assays in children presenting with neurologic manifestations especially when these are suspected to have a metabolic basis.
    MeSH term(s) Child ; Child, Preschool ; Diagnostic Tests, Routine ; Fumarate Hydratase/deficiency ; Fumarate Hydratase/genetics ; Fumarate Hydratase/metabolism ; Humans ; Infant ; Male ; Metabolism, Inborn Errors ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/genetics ; Psychomotor Disorders ; Sri Lanka
    Chemical Substances Fumarate Hydratase (EC 4.2.1.2)
    Language English
    Publishing date 2021-10-12
    Publishing country England
    Document type Journal Article
    ZDB-ID 391758-7
    ISSN 1943-7730 ; 0007-5027
    ISSN (online) 1943-7730
    ISSN 0007-5027
    DOI 10.1093/labmed/lmab083
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 1013: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: Corrigendum to: Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.

    Jasinge, Eresha / Fernando, Mihika / Ruwan Indika, Neluwa-Liyanage / Trunzo, Roberta / Schröder, Sabine / Vidanapathirana, Dinesha Maduri / Jones, Patricia M / Jayasena, Subashini / Gunarathne, Anusha Varuni / Ratnayake, Pyara

    Laboratory medicine

    2021  Volume 53, Issue 3, Page(s) e62

    Language English
    Publishing date 2021-10-04
    Publishing country England
    Document type Published Erratum
    ZDB-ID 391758-7
    ISSN 1943-7730 ; 0007-5027
    ISSN (online) 1943-7730
    ISSN 0007-5027
    DOI 10.1093/labmed/lmab107
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 1013: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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