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Tiina Tyni

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Chemicals & Drugs

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Oxidation-Reduction

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Finland

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T Ojala; Padmini Polinati; Jukka Rajantie; Anu Suomalainen; A Hiippala; Riitta Karikoski; Tuula Manninen; Tiina Tyni
New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.
Eva Roomets; Petra M Eskelin; Liliya Euro; Aila Paganus; Padmini P Polinati; Tiina Tyni
Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland.
Tiina Tyni; Tuuli Immonen; Päivi Lindahl; A Majander; Tero Kivelä
Refined staging for chorioretinopathy in long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency.

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All Publications

2012: T Ojala; Padmini Polinati; Jukka Rajantie; Anu Suomalainen; A Hiippala; Riitta Karikoski; Tuula Manninen; Tiina Tyni
New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.
Pediatric research 2012;72(4):432-7.
2012: Eva Roomets; Petra M Eskelin; Liliya Euro; Aila Paganus; Padmini P Polinati; Tiina Tyni
Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland.
The Journal of pediatrics 2012;160(3):473-479.e1.
2012: Tiina Tyni; Tuuli Immonen; Päivi Lindahl; A Majander; Tero Kivelä
Refined staging for chorioretinopathy in long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency.
Ophthalmic research 2012;48(2):75-81.
2011: Anu Suomalainen; Mar Tulinius; Tiina Tyni; Johanna Uusimaa; Hannele Yki-Järvinen; Katrin Ounap; Johanna Annunen-Rasila; Laurence A Bindoff; Jana Buzkova; Niklas Darin; Jenni M Elo; Anna H Hakonen; Michio Hirano; Pirjo Isohanni; Sari Kiuru-Enari; Leo A J Kluijtmans; Mari Korpela; Sanna K Marjavaara; Anders Paetau; Kirsi H Pietiläinen; Helena Pihko; Aila Rissanen; Ksenia Sevastianova; Jan Smeitink; Henna Tyynismaa
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
Lancet neurology 2011;10(9):806-18.
2011: Alexandra Götz; Henna Tyynismaa; Liliya Euro; Pekka Ellonen; Tuulia Hyötyläinen; T Ojala; Riikka H Hämäläinen; Johanna Tommiska; Taneli Raivio; Matej Oresic; Riitta Karikoski; Outi Tammela; Kalle O J Simola; Anders Paetau; Tiina Tyni; Anu Suomalainen
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
American journal of human genetics 2011;88(5):635-42.
2008: Eva Roomets; Tero Kivelä; Tiina Tyni
Carnitine palmitoyltransferase I and Acyl-CoA dehydrogenase 9 in retina: insights of retinopathy in mitochondrial trifunctional protein defects.
Investigative ophthalmology & visual science 2008;49(4):1660-4.
2006: E Roomets; Nina Lundbom; Helena Pihko; Sami Heikkinen; Tiina Tyni
Lipids detected by brain MRS during coma caused by carnitine palmitoyltransferase 1 deficiency.
Neurology 2006;67(8):1516-7.
2005: Ilona Autti-Rämö; Marjukka Mäkelä; Harri Sintonen; Hanna Koskinen; Liisa Laajalahti; Ritva Halila; Helena Kääriäinen; Risto Lapatto; Kirsti Näntö-Salonen; Kari Pulkki; Martin Renlund; Matti K Salo; Tiina Tyni
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
Acta paediatrica (Oslo, Norway : 1992) 2005;94(8):1126-36.
2005: Kati Ylitalo; Tuomo Vänttinen; Erja Halmesmäki; Tiina Tyni
Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency.
American journal of obstetrics and gynecology 2005;192(6):2060-2.
2004: Tiina Tyni; Anders Paetau; Arnold W Strauss; Bruce Middleton; Tero Kivelä
Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Pediatric research 2004;56(5):744-50.
2002: Tiina Tyni; Margaret Johnson; Simon Eaton; Morteza Pourfarzam; Richard Andrews; Douglass M Turnbull
Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium.
Pediatric research 2002;52(4):595-600.
2002: Tiina Tyni; Morteza Pourfarzam; Douglass M Turnbull
Analysis of mitochondrial fatty acid oxidation intermediates by tandem mass spectrometry from intact mitochondria prepared from homogenates of cultured fibroblasts, skeletal muscle cells, and fresh muscle.
Pediatric research 2002;52(1):64-70.
2002: Tiina Tyni; Helena Pihko
[Metabolic crisis in an infant--is the problem in the mitochondria?].
Duodecim; lääketieteellinen aikakauskirja 2002;118(13):1331-9.
1999: Tiina Tyni; Helena Pihko
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Acta paediatrica (Oslo, Norway : 1992) 1999;88(3):237-45.
1998: Tiina Tyni; Helena Pihko; Tero Kivelä
Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation.
Current eye research 1998;17(6):551-9.
1998: Tiina Tyni; Tero Kivelä; Marjatta Lappi; Paula Summanen; Eeva Nikoskelainen; Helena Pihko
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.
Ophthalmology 1998;105(5):810-24.
1998: Tiina Tyni; E Ekholm; Helena Pihko
Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
American journal of obstetrics and gynecology 1998;178(3):603-8.
1997: Tiina Tyni; Juhani Rapola; A Palotie; Helena Pihko
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
The Journal of pediatrics 1997;131(5):766-8.
1997: Tiina Tyni; Juhani Rapola; Anders Paetau; A Palotie; Helena Pihko
Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation.
Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association 1997;17(3):427-47.
1997: Tiina Tyni; A Palotie; Lasse Viinikka; Leena Valanne; Matti K Salo; Ulrika von Döbeln; S Jackson; R Wanders; Nikolaos Venizelos; Helena Pihko
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.
The Journal of pediatrics 1997;130(1):67-76.
1996: Tiina Tyni; A Majander; Hannu Kalimo; Juhani Rapola; Helena Pihko
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation.
Neuromuscular disorders : NMD 1996;6(5):327-37.
1993: Helena Pihko; Tiina Tyni; K Virkola; Leena Valanne; Kirsi Sainio; Liisa Hovi; UM Saarinen
Transient ischemic cerebral lesions during induction chemotherapy for acute lymphoblastic leukemia.
The Journal of pediatrics 1993;123(5):718-24.