Stefan Kölker
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View article: Transforming Growth Factor‐β‐Mediated Fibrotic Remodeling Drives Chronic Kidney Disease in Methylmalonic Aciduria and Propionic Aciduria—Identification of a New Therapeutic Target
Transforming Growth Factor‐β‐Mediated Fibrotic Remodeling Drives Chronic Kidney Disease in Methylmalonic Aciduria and Propionic Aciduria—Identification of a New Therapeutic Target Open
Propionic aciduria (PA‐uria) and methylmalonic aciduria (MMA‐uria) are caused by defects in propionate catabolism. While chronic kidney disease (CKD) is a well‐established complication in MMA‐uria, renal involvement in PA‐uria has only com…
View article: Effects of anserine on oxidative stress and on cell barrier integrity in methylmalonic aciduria
Effects of anserine on oxidative stress and on cell barrier integrity in methylmalonic aciduria Open
View article: Biallelic <i>NSUN3</i> Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder
Biallelic <i>NSUN3</i> Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder Open
Pathogenic or likely pathogenic biallelic variants in NSUN3 disrupt mt-tRNAMet methylation and mitochondrial translation leading to mitochondrial disease ranging from mild isolated optic atrophy to a severe multisystemic phenotype with pos…
View article: An atypical presentation in a child with propionic acidemia? Better think twice!
An atypical presentation in a child with propionic acidemia? Better think twice! Open
This report details the case of an infant with confirmed propionic acidemia who presented with progressive neurological deterioration and recurrent episodes of metabolic decompensation with elevated lactate levels, but without hyperammonem…
View article: Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases
Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases Open
View article: Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?
Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? Open
Driven by technological innovations, newborn screening (NBS) panels have been expanded and the development of genomic NBS pilot programs is rapidly progressing. Decisions on disease selection for NBS are still based on the Wilson and Jungn…
View article: Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN
Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN Open
View article: Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening
Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening Open
Newborn screening (NBS) is one of the most effective measures of secondary prevention. While the benefit of NBS on the clinical long‐term outcomes of children with inherited metabolic diseases (IMD) has been demonstrated, the potential bur…
View article: Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders
Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders Open
The UCDC database is recorded at the US National Library of Medicine (https://clinicaltrials.gov).
View article: <scp>MRI</scp> in <scp>LARS1</scp> deficiency—Spectrum, patterns, and correlation with acute neurological deterioration
<span>MRI</span> in <span>LARS1</span> deficiency—Spectrum, patterns, and correlation with acute neurological deterioration Open
Leucine aminoacyl tRNA‐synthetase 1 (LARS1)‐deficiency (infantile liver failure syndrome type 1 (ILFS1)) has a multisystemic phenotype including fever‐associated acute liver failure (ALF), chronic neurologic abnormalities, and encephalopat…
View article: Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases
Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases Open
Comprehensive whole-body models (WBMs) accounting for organ-specific dynamics have been developed to simulate adult metabolism, but such models do not exist for infants. Here, we present a resource of 360 organ-resolved, sex-specific model…
View article: Comparative analysis of gene and disease selection in genomic newborn screening studies
Comparative analysis of gene and disease selection in genomic newborn screening studies Open
Genomic newborn screening (gNBS) is on the horizon given the decreasing costs of sequencing and the advanced understanding of the impact of genetic variants on health and diseases. Key to ongoing gNBS pilot studies is the selection of targ…
View article: Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias Open
The current German newborn screening (NBS) panel includes 13 inherited metabolic diseases (IMDs). In addition, a NBS pilot study in Southwest Germany identifies individuals with propionic acidemia (PA), methylmalonic acidemia (MMA), combin…
View article: Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders
Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders Open
Objective This study aims to elucidate the long‐term benefit of newborn screening (NBS) for individuals with long‐chain 3‐hydroxy‐acyl‐CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, inherited metabolic …
View article: Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease Open
View article: Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders Open
View article: Genetic landscape of pediatric acute liver failure of indeterminate origin
Genetic landscape of pediatric acute liver failure of indeterminate origin Open
Background and Aims: Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, the main causes are viral infections (12%–16%) and inherited metabolic diseases (14%–28%). Yet, in up to 50% of cases the underlying etio…
View article: Personalised metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases
Personalised metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases Open
Extensive whole-body models (WBMs) accounting for organ-specific dynamics have been developed to simulate adult metabolism. However, there is currently a lack of models representing infant metabolism taking into consideration its special r…
View article: Evaluierung und Optimierung des Neugeborenenscreenings mittels strukturierter Langzeitbeobachtung – am Beispiel der angeborenen Stoffwechselerkrankungen
Evaluierung und Optimierung des Neugeborenenscreenings mittels strukturierter Langzeitbeobachtung – am Beispiel der angeborenen Stoffwechselerkrankungen Open
View article: Clinical outcomes and survival of individuals with methylmalonic acidemia, propionic acidemia, classic homocystinuria, and remethylation disorders identified through newborn screening
Clinical outcomes and survival of individuals with methylmalonic acidemia, propionic acidemia, classic homocystinuria, and remethylation disorders identified through newborn screening Open
Summary The current German newborn screening (NBS) panel includes 13 inherited metabolic diseases (IMDs). In addition, the NBS pilot study in Southwest Germany identifies individuals with methylmalonic acidemia (MMA), propionic acidemia (P…
View article: The challenge of understanding and predicting phenotypic diversity in urea cycle disorders
The challenge of understanding and predicting phenotypic diversity in urea cycle disorders Open
The Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E‐IMD) are the worldwide largest databases for individuals with urea cycle disorders (UCDs) comprising longitudinal …
View article: Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples Open
Analytical and therapeutic innovations led to a continuous but variable extension of newborn screening (NBS) programmes worldwide. Every extension requires a careful evaluation of feasibility, diagnostic (process) quality and possible heal…
View article: Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria Open
Newborn screening (NBS) programs are effective measures of secondary prevention and have been successively extended. We aimed to evaluate NBS for methylmalonic acidurias, propionic acidemia, homocystinuria, remethylation disorders and neon…
View article: Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria Open
Inherited disorders of mitochondrial metabolism, including isolated methylmalonic aciduria, present unique challenges to energetic homeostasis by disrupting energy-producing pathways. To better understand global responses to energy shortag…
View article: The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria
The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria Open
View article: Organic acidurias: Ingredients for precision medicine
Organic acidurias: Ingredients for precision medicine Open
Organic acidurias or acidaemias (OADs), such as glutaric aciduria type 1, methylmalonic, propionic and isovaleric aciduria, are a group of inherited metabolic diseases whose common biochemical hallmark is the accumulation of non-amino mono…
View article: Newborn Screening in a Pandemic—Lessons Learned
Newborn Screening in a Pandemic—Lessons Learned Open
The COVID-19 pandemic affected many essential aspects of public health, including newborn screening programs (NBS). Centers reported missing cases of inherited metabolic disease as a consequence of decreased diagnostic process quality duri…
View article: Exploring genotype–phenotype correlations in glutaric aciduria type 1
Exploring genotype–phenotype correlations in glutaric aciduria type 1 Open
Glutaric aciduria type 1 (GA1) is a rare neurometabolic disease caused by pathogenic variants in the gene encoding the enzyme glutaryl‐CoA dehydrogenase (GCDH). We performed an extensive literature search to collect data on GA1 patients, t…
View article: Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria
Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria Open
Isovaleric aciduria (IVA) is a rare disorder of leucine metabolism and part of newborn screening (NBS) programs worldwide. However, NBS for IVA is hampered by, first, the increased birth prevalence due to the identification of individuals …
View article: Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in <scp><i>NBAS</i></scp>
Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in <span><i>NBAS</i></span> Open
Biallelic pathogenic variants in the neuroblastoma amplified sequence ( NBAS ) gene affecting the Sec39 domain are associated with a predominant hepatic phenotype named infantile liver failure syndrome type 2 (ILFS2). Individuals are at ri…