Paul B. De Laat

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 17 publications

Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous TRPV6 Deletion.

Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous TRPV6 Deletion.

Journal: Clinical endocrinology

Published: October 13, 2025

Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant.

Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant.

Journal: Journal of inherited metabolic disease

Published: April 14, 2022

One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.

One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.

Journal: Metabolomics : Official journal of the Metabolomic Society

Published: September 04, 2020

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

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

Journal: Journal of medical genetics

Published: December 20, 2019

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.

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.

Journal: Clinical kidney journal

Published: September 03, 2018

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

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

Journal: Orphanet journal of rare diseases

Published: August 09, 2018

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

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

Journal: Clinical pharmacology and therapeutics

Published: July 31, 2018

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

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

Journal: Molecular genetics & genomic medicine

Published: July 12, 2018

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

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

Journal: Mitochondrion

Published: August 17, 2017

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

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

Journal: Orphanet journal of rare diseases

Published: July 27, 2017

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

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

Journal: Orphanet journal of rare diseases

Published: February 23, 2017

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

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

Journal: BBA clinical

Published: February 08, 2016

Showing 1-12 of 17

Last Updated: 09/26/2026