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  1. AU="Ourani, Sofia"
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  1. Article: Inherited metabolic disorders in Cyprus.

    Georgiou, Theodoros / Petrou, Petros P / Malekkou, Anna / Ioannou, Ioannis / Gavatha, Marina / Skordis, Nicos / Nicolaidou, Paola / Savvidou, Irini / Athanasiou, Emilia / Ourani, Sofia / Papamichael, Elena / Vogazianos, Marios / Dionysiou, Maria / Mavrikiou, Gabriella / Grafakou, Olga / Tanteles, George A / Anastasiadou, Violetta / Drousiotou, Anthi

    Molecular genetics and metabolism reports

    2024  Volume 39, Page(s) 101083

    Abstract: Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%). The existence of a single laboratory of ... ...

    Abstract Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%). The existence of a single laboratory of Biochemical Genetics for the whole island facilitated the creation of a national registry for IMD. The minimal prevalence of IMD in Cyprus is 53.3 cases per 100,000 live births. The most common group are disorders of amino acid metabolism (41.0%), followed by disorders of carbohydrate metabolism (16.5%), disorders of complex molecule degradation (16.5%), mitochondrial disorders (10.5%) and disorders of vitamin and co-factor metabolism (5.5%). Hyperphenylalaninaemia is the most common IMD (14.0%) followed by galactosaemia (7.0%), glutaric aciduria type I (5.5%) and MSUD (4.0%). Some disorders were found to have a relatively high incidence in specific communities, for example Sandhoff disease among the Cypriot Maronites and GM1 gangliosidosis in one particular area of the island. Other disorders were found to have a relatively higher overall incidence, compared to other Caucasian populations, for example galactosaemia, glutaric aciduria type I and MSUD, while fatty acid oxidation defects, Gaucher disease and classic PKU were found to have a relatively lower incidence. Molecular characterization of selected disorders revealed many novel genetic variants, specific to the Cypriot population.
    Language English
    Publishing date 2024-04-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2024.101083
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: GAA

    Malekkou, Anna / Theodosiou, Athina / Alexandrou, Angelos / Papaevripidou, Ioannis / Sismani, Carolina / Jacobs, Edwin H / Ruijter, George J G / Anastasiadou, Violetta / Ourani, Sofia / Athanasiou, Emilia / Drousiotou, Anthi / Grafakou, Olga / Petrou, Petros P

    Molecular genetics and metabolism reports

    2023  Volume 36, Page(s) 100997

    Abstract: Pompe disease is a rare metabolic myopathy caused by pathogenic variants affecting the activity of the lysosomal glycogen-degrading enzyme acid alpha-glucosidase (GAA). Impaired GAA function results in the accumulation of undegraded glycogen within ... ...

    Abstract Pompe disease is a rare metabolic myopathy caused by pathogenic variants affecting the activity of the lysosomal glycogen-degrading enzyme acid alpha-glucosidase (GAA). Impaired GAA function results in the accumulation of undegraded glycogen within lysosomes in multiple tissues but predominantly affects the skeletal, smooth and cardiac muscle. The degree of residual enzymatic activity appears to roughly correlate with the age of onset and the severity of the clinical symptoms. Here, we report four siblings in which the
    Language English
    Publishing date 2023-08-07
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2023.100997
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    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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