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Paul de Laat

erasmus mc

H指数:16

被引数:742

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

一过性甲状旁腺功能亢进症和严重宫内骨量减少与新型纯合子TRPV6缺失相关

Clinical Endocrinology

IF2.4

2026-03-010

OAAI

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

一种突变，三种表型: 由m.3243A> G突变引起的MELAS，MIDD和肌病的新代谢见解

IF3.3

2021-01-1213

PREAI

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

JOURNAL OF MEDICAL GENETICS

IF3.7

2020-05-2117

PREAI

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

CLINICAL KIDNEY JOURNAL

IF4.6

2019-04-2113

OAAI

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

IF4.5

2019-03-0116

OAAI

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

m.3243A>G突变携带者对疾病进展的恐惧

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2018-11-137

OAAI

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

CLINICAL PHARMACOLOGY & THERAPEUTICS

IF5.5

2018-09-0341

OAAI

Quantification of gait in mitochondrial m.3243A > G patients: a validation study (vol 12, 91, 2017)

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2017-10-270

OAAI

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

线粒体m. 3243A> G患者步态的量化: 一项验证研究

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2017-05-156

OAAI

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

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2016-03-1819

OAAI

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

m.3243A>G突变携带者的产科并发症，一项关于母婴结局的回顾性队列研究

IF4.5

2015-11-0132

PREAI

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

IF8.5

2014-07-0837

PREAI

Mitochondrial Retinal Dystrophy Associated with the m.3243A>G Mutation

与m.3243A>G突变相关的线粒体视网膜营养不良

IF9.5

2013-12-0151

PREAI

Serum Fibroblast Growth Factor 21 (FGF-21) levels: Is there a correlation with disease severity and disease progression in m3243A>G carriers?

IF4.5

2013-11-010

PREAI

Posterior reversible encephalopathy syndrome in childhood cancer

ANNALS OF ONCOLOGY

IF65.4

2011-02-0179

OAAI