T
Tiina Tyni
Researcher at University of Helsinki
Publications - 35
Citations - 2030
Tiina Tyni is an academic researcher from University of Helsinki. The author has contributed to research in topics: Mitochondrial trifunctional protein & Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. The author has an hindex of 21, co-authored 35 publications receiving 1817 citations. Previous affiliations of Tiina Tyni include Helsinki University Central Hospital.
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Journal ArticleDOI
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
Anu Suomalainen,Anu Suomalainen,Jenni M. Elo,Kirsi H. Pietiläinen,Anna H. Hakonen,Ksenia Sevastianova,Mari Päivikki Korpela,Pirjo Isohanni,Pirjo Isohanni,Sanna Marjavaara,Tiina Tyni,Tiina Tyni,Sari Kiuru-Enari,Helena Pihko,Niklas Darin,Katrin Õunap,Leo A. J. Kluijtmans,Anders Paetau,Jana Buzkova,Laurence A. Bindoff,Johanna Annunen-Rasila,Johanna Uusimaa,Aila Rissanen,Hannele Yki-Järvinen,Michio Hirano,Mar Tulinius,Jan A.M. Smeitink,Henna Tyynismaa +27 more
TL;DR: Measurement of FGF-21 concentrations in serum identified primary muscle-manifesting respiratory chain deficiencies in adults and children and might be feasible as a first-line diagnostic test for these disorders to reduce the need for muscle biopsy.
Journal ArticleDOI
Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy
Alexandra Götz,Henna Tyynismaa,Liliya Euro,Pekka Ellonen,Tuulia Hyötyläinen,Tiina Ojala,Riikka H. Hämäläinen,Johanna Tommiska,Johanna Tommiska,Taneli Raivio,Taneli Raivio,Matej Orešič,Riitta Karikoski,Riitta Karikoski,Outi Tammela,Kalle O. J. Simola,Anders Paetau,Anders Paetau,Tiina Tyni,Tiina Tyni,Anu Suomalainen,Anu Suomalainen +21 more
TL;DR: It is shown that mutations in AARS2 cause perinatal or infantile cardiomyopathy with near-total combined mitochondrial respiratory chain deficiency in the heart and that mitochondrial disorders extend to prenatal life and are an important cause of early infantile cardiac failure.
Journal ArticleDOI
Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
TL;DR: The results support the role of fatty acid accumulation in the pathogenesis of preeclampsia, and analysis for the prevalent mutation of this deficiency may be warranted in pregnancies with severe preeClampsia.
Journal ArticleDOI
Long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients
Tiina Tyni,Aarno Palotie,Lasse Viinikka,Leena Valanne,Matti K. Salo,Ulrika von Döbeln,Sandra Jackson,Ronald J.A. Wanders,Nikolaos Venizelos,Helena Pihko +9 more
TL;DR: The clinical findings of 13 patients with long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase deficiency were reported in this paper, and all patients were homozygous for the common mutation G1528C.
Journal Article
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients
Tiina Tyni,Aarno Palotie,Lasse Viinikka,Leena Valanne,Matti K. Salo,U vonDobeln,S Jackson,R Wanders,Nikolaos Venizelos,Helena Pihko +9 more
TL;DR: Recognition of the clinical features of long-chain 3-hydroxyacyl-CoA deficiency is important for the early institution of dietary management, which may alter the otherwise invariably poor prognosis.