Stefan Vlaho

Altoetting, BY, Germany

Last Updated: 09/26/2026

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Found 8 publications

Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and Death.

Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and Death.

Journal: Neuropediatrics

Published: January 14, 2021

A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions.

A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions.

Journal: Gene

Published: October 11, 2019

ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.

ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.

Journal: BioMed research international

Published: April 17, 2015

T-cell homeostasis in pediatric multiple sclerosis: old cells in young patients.

T-cell homeostasis in pediatric multiple sclerosis: old cells in young patients.

Journal: Neurology

Published: August 06, 2013

Rasmussen encephalitis: incidence and course under randomized therapy with tacrolimus or intravenous immunoglobulins.

Rasmussen encephalitis: incidence and course under randomized therapy with tacrolimus or intravenous immunoglobulins.

Journal: Epilepsia

Published: December 11, 2012

Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES.

Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES.

Journal: Neuropediatrics

Published: August 23, 2012

Neurodegeneration in ataxia telangiectasia: what is new? What is evident?

Neurodegeneration in ataxia telangiectasia: what is new? What is evident?

Journal: Neuropediatrics

Published: May 23, 2012

Encephalopathy and sinustachycardia in childhood--a possible differential diagnosis.

Encephalopathy and sinustachycardia in childhood--a possible differential diagnosis.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: May 11, 2012

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Last Updated: 09/26/2026