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Published in Frontiers in physiology (25.09.2019)
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Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency
Ferdinandusse, Sacha, Finckh, Barbara, de Hingh, Yvette C, Stroomer, Lida E.M, Denis, Simone, Kohlschütter, Alfried, Wanders, Ronald J.A
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Published in Molecular genetics and metabolism (01.08.2003)
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Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients
Wasim, Muhammad, Khan, Haq N., Ayesha, Hina, Iqbal, Mazhar, Tawab, Abdul, Irfan, Muhammad, Kanhai, Warsha, Goorden, Susanna M. I., Stroomer, Lida, Salomons, Gajja, Vaz, Frederic M., Karnebeek, Clara D. M. van, Awan, Fazli R.
Published in Journal of Pediatric Endocrinology & Metabolism (28.03.2022)
Published in Journal of Pediatric Endocrinology & Metabolism (28.03.2022)
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Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia
Abeling, Nico G., Duran, Marinus, Bakker, Henk D., Stroomer, Lida, Thöny, Beat, Blau, Nenad, Booij, Jan, Poll-The, Bwee Tien
Published in Molecular genetics and metabolism (01.09.2006)
Published in Molecular genetics and metabolism (01.09.2006)
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