Search Results - "Escudero Gómez, J"

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    Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature by García García, L.C., Zamorano Martín, F., Rocha de Lossada, C., García Lorente, M., Luque Aranda, G., Escudero Gómez, J.

    “…Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare metabolic disease caused by a specific mutation in the HADHA gene, which leads to an alteration…”
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    Journal Article
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    Haberland syndrome with bilateral ocular involvement by Zamorano Martín, F., García Lorente, M., Rocha de Lossada, C., Rachwani Anil, R., Santos Ortega, A., Escudero Gómez, J.

    “…Haberland syndrome or encephalocutaneous lipomatosis is a very uncommon syndrome that is characterised by changes in the skin, eye, and central nervous system…”
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    Journal Article
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    Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature by García García, L C, Zamorano Martín, F, Rocha de Lossada, C, García Lorente, M, Luque Aranda, G, Escudero Gómez, J

    “…Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare metabolic disease caused by a specific mutation in the HADHA gene, which leads to an alteration…”
    Get full text
    Journal Article
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    Retinosis pigmentaria como clínica de presentación del déficit de LCHAD: caso clínico y revisión de la literatura by García García, L.C., Zamorano Martín, F., Rocha de Lossada, C., García Lorente, M., Luque Aranda, G., Escudero Gómez, J.

    “…El déficit de 3-hidroxiacil CoA-deshidrogenasa de cadena larga es una enfermedad metabólica poco frecuente debido a una mutación específica en el gen HADHA, lo…”
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    Journal Article
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    Síndrome de Haberland con afectación ocular bilateral by Zamorano Martín, F., García Lorente, M., Rocha de Lossada, C., Rachwani Anil, R., Santos Ortega, A., Escudero Gómez, J.

    “…El síndrome de Haberland o lipomatosis encefalocraneocutánea es un síndrome muy infrecuente caracterizado por la tríada clásica de afectación cutánea, ocular y…”
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    Journal Article
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