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CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
2023 - Forschungsinformationssystem des UKE - frei zugänglich
Neonatal screening for isovaleric aciduria:Reducing the increasingly high false-positive rate in Germany
2023 - Forschungsinformationssystem des UKE - frei zugänglich
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
2022 - Forschungsinformationssystem des UKE
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study
2021 - Forschungsinformationssystem des UKE - frei zugänglich
SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany
2021 - Forschungsinformationssystem des UKE - frei zugänglich
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein
2021 - Forschungsinformationssystem des UKE
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Longitudinal development of antibody responses in covid-19 patients of different severity with elisa, peptide, and glycan arrays: An immunological case series
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome
2020 - Forschungsinformationssystem des UKE
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
2020 - Forschungsinformationssystem des UKE
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
2020 - Forschungsinformationssystem des UKE
Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease
2019 - Forschungsinformationssystem des UKE
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
2019 - Forschungsinformationssystem des UKE
Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a
2018 - Forschungsinformationssystem des UKE
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
2018 - Forschungsinformationssystem des UKE
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
2018 - Forschungsinformationssystem des UKE
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
2017 - Forschungsinformationssystem des UKE
MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2
2017 - Forschungsinformationssystem des UKE
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells
2017 - Forschungsinformationssystem des UKE
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study
2017 - Forschungsinformationssystem des UKE

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CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

Neonatal screening for isovaleric aciduria:Reducing the increasingly high false-positive rate in Germany

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study

SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany

The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

Longitudinal development of antibody responses in covid-19 patients of different severity with elisa, peptide, and glycan arrays: An immunological case series

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome

Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2

Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study