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Genetic Basis of Severe Childhood-Onset Cardiomyopathies

Journal of the American College of Cardiology, 2018-11, Vol.72 (19), p.2324-2338

2018

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Moyamoya angiopathy: radiological follow-up findings in Finnish patients

Journal of neurology, 2020-08, Vol.267 (8), p.2301-2306

2020

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Malonyl-CoA decarboxylase deficiency: Long-term follow-up of a patient new clinical features and novel mutations

Brain & development (Tokyo. 1979), 2015-01, Vol.37 (1), p.107-113

2015

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Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency – A follow-up EMG study of 12 patients

European journal of paediatric neurology, 2016-01, Vol.20 (1), p.38-44

2016

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Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy – A common feature of the pregnancy complication?

Molecular genetics and metabolism, 2010-06, Vol.100 (2), p.204-206

2010

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Carrier Frequency of a Common Mutation of Carnitine Palmitoyltransferase 1A Deficiency and Long-Term Follow-Up in Finland

The Journal of pediatrics, 2012-03, Vol.160 (3), p.473-479.e1

2012

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New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies

Pediatric research, 2012-10, Vol.72 (4), p.432-437

2012

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ACAD expression and role of mitochondrial fatty acid β‐oxidation in retinal pigment epithelium

The FASEB journal, 2012-04, Vol.26 (S1)

2012

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Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

American journal of human genetics, 2011-05, Vol.88 (5), p.635-642

2011

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Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein

European journal of pediatrics, 2015-12, Vol.174 (12), p.1689-1692

2015

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Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Acta Paediatrica, 2016-05, Vol.105 (5), p.549-554

2016

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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

Investigative ophthalmology & visual science, 2015-05, Vol.56 (5), p.3371-3382

2015

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Moyamoya angiopathy: long-term follow-up study in a Finnish population

Journal of neurology, 2019-03, Vol.266 (3), p.574-581

2019

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Moyamoya vasculopathy – Patient demographics and characteristics in the Finnish population

International journal of stroke, 2017-01, Vol.12 (1), p.90-95

2017

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Erratum to “Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency – A follow-up EMG study of 12 patients” [Eur J Paediatr Neuro 20 (2016) 38–44]

European journal of paediatric neurology, 2019-01, Vol.23 (1), p.228-228

2019

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The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1433-1438

2016

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Carnitine Palmitoyltransferase I and Acyl-CoA Dehydrogenase 9 in Retina: Insights of Retinopathy in Mitochondrial Trifunctional Protein Defects

Investigative ophthalmology & visual science, 2008-04, Vol.49 (4), p.1660-1664

2008

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LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging

Human mutation, 2015-07, Vol.36 (7), p.694-703

2015

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Flavin-sensitive variant FAD synthases underlying riboflavin responsive Multiple Acyl-CoA Dehydrogenation Deficiency

Biochimica et biophysica acta. Bioenergetics, 2016-08, Vol.1857, p.e97-e97

2016

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Protein mislocalization and long-term follow-up of a patient with malonyl-CoA decarboxylase deficiency

Mitochondrion, 2011-07, Vol.11 (4), p.639

2011

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Mitochondrial fatty acid β-oxidation in the human eye and brain: Implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Pediatric research, 2004-11, Vol.56 (5), p.744-750

2004

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Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

American journal of obstetrics and gynecology, 1998-03, Vol.178 (3), p.603-608

1998

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Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency

American journal of obstetrics and gynecology, 2005-06, Vol.192 (6), p.2060-2062

2005

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Refined Staging for Chorioretinopathy in Long-Chain 3-Hydroxyacyl Coenzyme A Dehydrogenase Deficiency

Ophthalmic research, 2012-01, Vol.48 (2), p.75-81

2012

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Genetic Basis of Severe Childhood-Onset Cardiomyopathies

Moyamoya angiopathy: radiological follow-up findings in Finnish patients

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Malonyl-CoA decarboxylase deficiency: Long-term follow-up of a patient new clinical features and novel mutations

Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency – A follow-up EMG study of 12 patients

Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy – A common feature of the pregnancy complication?

Carrier Frequency of a Common Mutation of Carnitine Palmitoyltransferase 1A Deficiency and Long-Term Follow-Up in Finland

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies

ACAD expression and role of mitochondrial fatty acid β‐oxidation in retinal pigment epithelium

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein

Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

Moyamoya angiopathy: long-term follow-up study in a Finnish population

Moyamoya vasculopathy – Patient demographics and characteristics in the Finnish population

Erratum to “Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency – A follow-up EMG study of 12 patients” [Eur J Paediatr Neuro 20 (2016) 38–44]

The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy

Carnitine Palmitoyltransferase I and Acyl-CoA Dehydrogenase 9 in Retina: Insights of Retinopathy in Mitochondrial Trifunctional Protein Defects

LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging

Flavin-sensitive variant FAD synthases underlying riboflavin responsive Multiple Acyl-CoA Dehydrogenation Deficiency

Protein mislocalization and long-term follow-up of a patient with malonyl-CoA decarboxylase deficiency

Mitochondrial fatty acid β-oxidation in the human eye and brain: Implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency

Refined Staging for Chorioretinopathy in Long-Chain 3-Hydroxyacyl Coenzyme A Dehydrogenase Deficiency

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