Malonyl-CoA decarboxylase deficiency: Long-term follow-up of a patient new clinical features and novel mutations von Polinati, Padmini P, Valanne, Leena, Tyni, Tiina

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Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency von Polinati, Padmini P, Ilmarinen, Tanja, Trokovic, Ras, Hyotylainen, Tuulia, Otonkoski, Timo, Suomalainen, Anu, Skottman, Heli, Tyni, Tiina

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Carrier Frequency of a Common Mutation of Carnitine Palmitoyltransferase 1A Deficiency and Long-Term Follow-Up in Finland von Roomets, Eva, MD, Polinati, Padmini P., MSc, Euro, Liliya, PhD, Eskelin, Petra M., MD, PhD, Paganus, Aila, MSc, Tyni, Tiina, MD, PhD

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Patient-specific induced pluripotent stem cell-derived RPE cells: Understanding the pathogenesis of retinopathy in long-chain 3-hydroxyacyl-CoA dehydrogenase deiciency von Polinati, P. P., Ilmarinen, T., Trokovic, R., Hyötyläinen, Tuulia, Otonkoski, T., Suomalainen, A., Skottman, H., Tynitiina, T.

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Protein mislocalization and long-term follow-up of a patient with malonyl-CoA decarboxylase deficiency von Polinati⁎, Padmini P., Roomets, Eva, Tyni, Tiina

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