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42 Einträge gefunden

Neonatal screening for isovaleric aciduria:Reducing the increasingly high false-positive rate in Germany
2023 - Forschungsinformationssystem des UKE - frei zugänglich
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
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
2022 - Forschungsinformationssystem des UKE
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
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein
2021 - 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
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
2021 - Forschungsinformationssystem des UKE - frei zugänglich
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
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome
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
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study
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

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

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

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

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

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

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

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

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

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

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

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

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