A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency by Berrak Bilginer Gürbüz, İlker Güney, Fatma Derya Bulut, Okan Dilek

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Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies by Dilek Doğruel, Fatma Derya Bulut, Mustafa Yılmaz, Neslihan Önenli-Mungan, Derya Ufuk Altıntaş

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Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations by Deniz Kör, Berna Şeker-Yılmaz, Fatma Derya Bulut, Sebile Kılavuz, Murat Öktem, Serdar Ceylaner, Dinçer Yıldızdaş, Neslihan Önenli-Mungan

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Clinical features and rare complications in 132 patients with hepatic glycogenosis by Deniz Kor, Fatma Derya Bulut, Burcu Köşeci, Esra Kara, Ezgi Burgaç, İrem Kaplan, Nazmiye Tüzel Gündüz, Halise Neslihan Önenli Mungan

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Evaluation of Patients Diagnosed with Congenital Glycosylation Defects: A Rainbow of Inherited Metabolic Disorders by Sebile Kılavuz, Fatma Derya Bulut, Deniz Kor, Berna Şeker Yılmaz, Atıl Bişgin, Fadli Demir, Bahriye Atmış, Derya Alabaz, Neslihan Mungan, Mustafa Yılmaz

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A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics by Mehmet Cihan Balci, Deniz Kor, Yilmaz Yildiz, Meryem Karaca, Fatma Derya Bulut, Ayca Burcu Kahraman, Alihan Yesil, Ezgi Burgac, Kismet Ciki, Arzu Selamioglu, Burcu Koseci, Asli Durmus, Irem Kaplan, Esra Kara, Halise Neslihan Mungan, Serap Sivri, Gulden Fatma Gokcay, Aysegul Tokatli, Mubeccel Demirkol, Turgay Coskun, Imran Ozalp

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