0000-0002-7420-4757
In a Lonely Place: Investigating Regional Differences in Loneliness
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Impact of newborn screening on survival and neurocognitive outcome in classic isovaleric aciduria: a meta-analysis
Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1
Elevated Soluble ACE2 Activity in Children and Adults After SARS‐CoV‐2 Exposure Irrespective of Laboratory‐Confirmed Infection
Age-appropriate or delayed myelination? Scoring myelination in routine clinical MRI
Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis
Group-based circuit training to improve mobility after stroke: a cross-sectional survey of German and Austrian physical therapists in outpatient settings
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
<i>Carnosinase-1</i> Knock-Out Reduces Kidney Fibrosis in Type-1 Diabetic Mice on High Fat Diet
Humoral immune response and live-virus neutralization of the SARS-CoV-2 omicron (BA.1) variant after COVID-19 mRNA vaccination in children and young adults with chronic kidney disease
Live‐virus neutralization of the omicron variant in children and adults 14 months after SARS‐CoV‐2 wild‐type infection
Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria
Evaluation of Right Ventricular Function in Patients with Propionic Acidemia—A Cross-Sectional Study
Identification of PMD subgroups using a myelination score for PMD
Maternal Vitamin B12 Deficiency Detected by Newborn Screening—Evaluation of Causes and Characteristics
Postauthorization safety study of betaine anhydrous
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study
How longitudinal observational studies can guide screening strategy for rare diseases
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Quantitative retrospective natural history modeling of <i>WDR45</i>-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases
Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening
Unmet Needs of Parents of Children with Urea Cycle Disorders
Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Core content of pediatric specialty training Prioritization using the Delphi method
Cross-sectional quantitative analysis of the natural history of<i>TUBA1A</i>and<i>TUBB2B</i>tubulinopathies
Delineating the clinical spectrum of isolated methylmalonic acidurias:<i>cblA</i>and<i>mut</i>
Health Outcomes of Infants with Vitamin B<sub>12</sub> Deficiency Identified by Newborn Screening and Early Treated
Impact of glycogen storage disease type I on adult daily life: a survey
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study
Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Patterns of extreme temperature-related catastrophic events in Europe including the Russian Federation: a cross-sectional analysis of the Emergency Events Database
Prevalence of SARS-CoV-2 Infection in Children and Their Parents in Southwest Germany
Quantitative retrospective natural history modeling for orphan drug development
Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study (vol 11, 19300, 2021)
Transmission of Severe Acute Respiratory Syndrome Coronavirus 2 in Households with Children, Southwest Germany, May-August 2020
A Global Cndp1-Knock-Out Selectively Increases Renal Carnosine and Anserine Concentrations in an Age- and Gender-Specific Manner in Mice
Cardiac phenotype in propionic acidemia - Results of an observational monocentric study
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients
FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria
High throughput newborn screening for aromatic & x29f;-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders
The Genetic Landscape and Epidemiology of Phenylketonuria
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases
Disasters in Germany and France: An Analysis of the Emergency Events Database From a Pediatric Perspective
Ultra-orphan lysosomal storage diseases: A cross-sectional quantitative analysis of the natural history of alpha-mannosidosis
CLINICAL RELEVANCE OF THE EFFECTS OF REACH-TO-GRASP TRAINING USING TRUNK RESTRAINT IN INDIVIDUALS WITH HEMIPARESIS POSTSTROKE: A SYSTEMATIC REVIEW
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I
The Relationship Between Self-Compassion and Well-Being: A Meta-Analysis
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients
Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: Assessing responsiveness in a model of statistical process control
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I
Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: A meta-analysis
Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
Qualitative urinary organic acid analysis: Methodological approaches and performance
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts
Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)
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Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency