Thomas Mechelke-Schmitt

Luzern, LU 6004, Switzerland

Last Updated: 09/26/2026

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Found 23 publications

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32.

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32.

Journal: International journal of neonatal screening

Published: December 14, 2021

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Journal: Human mutation

Published: July 27, 2021

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.

Journal: International journal of neonatal screening

Published: April 18, 2021

LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.

LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.

Journal: Neurology. Genetics

Published: September 15, 2020

Feasibility and usefulness of rapid 2-channel-EEG-monitoring (point-of-care EEG) for acute CNS disorders in the paediatric emergency department: an observational study.

Feasibility and usefulness of rapid 2-channel-EEG-monitoring (point-of-care EEG) for acute CNS disorders in the paediatric emergency department: an observational study.

Journal: Emergency medicine journal : EMJ

Published: April 28, 2020

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

Journal: European journal of human genetics : EJHG

Published: March 21, 2018

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 08, 2018

Prenatal Brainstem Disruptions: Small Lesions-Big Problems.

Prenatal Brainstem Disruptions: Small Lesions-Big Problems.

Journal: Neuropediatrics

Published: June 02, 2017

Resuscitation of a Patient With an Implanted Electronic Device.

Resuscitation of a Patient With an Implanted Electronic Device.

Journal: Annals of emergency medicine

Published: May 23, 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Journal: Brain : a journal of neurology

Published: November 08, 2016

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.

Journal: European journal of medical genetics

Published: October 12, 2016

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

Journal: Frontiers in neurology

Published: August 04, 2016

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Last Updated: 09/26/2026