Lista de obras - Paul de Laat - Dominio Público Uruguay

A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).

artículo científico publicado en 2018

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

artículo científico publicado en 2012

Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation

artículo científico publicado en 2012

Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study

artículo científico publicado en 2017

Fear of disease progression in carriers of the m.3243A > G mutation

scientific article published on 13 November 2018

Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature

scientific article published on 21 April 2019

Inheritance of the m.3243A>G mutation

artículo científico publicado en 2012

Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation

artículo científico publicado en 2018

Migratory polyarthritis as an adverse effect of thiamazole use in a 13-year-old girl with Graves' disease

artículo científico publicado en 2015

Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.

artículo científico publicado en 2013

Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome

artículo científico publicado en 2015

Posterior reversible encephalopathy syndrome in childhood cancer

artículo científico publicado en 2010

Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation

artículo científico publicado en 2016

Quantification of gait in mitochondrial m.3243A > G patients: a validation study

artículo científico publicado en 2017

Serum FGF21 levels in adult m.3243A>G carriers: Clinical implications

artículo científico publicado en 2014

Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers.

artículo científico publicado en 2015

Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant

scientific article published on 21 May 2020

The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders

scientific article published on 03 September 2018

Three families with 'de novo' m.3243A > G mutation

artículo científico publicado en 2016

Lista de obras de Paul de Laat

A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation

Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study

Fear of disease progression in carriers of the m.3243A > G mutation

Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature

Inheritance of the m.3243A>G mutation

Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation

Migratory polyarthritis as an adverse effect of thiamazole use in a 13-year-old girl with Graves' disease

Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.

Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome

Posterior reversible encephalopathy syndrome in childhood cancer

Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation

Quantification of gait in mitochondrial m.3243A > G patients: a validation study

Serum FGF21 levels in adult m.3243A>G carriers: Clinical implications

Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers.

Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant

The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders

Three families with 'de novo' m.3243A > G mutation