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Author Details

Peter Freisinger
Hospital Reutlingen
1991
114
44
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37976411Genetic landscape of pediatric acute liver failure of indeterminate origin.Hepatology2024
36264537Ex vivo proton spectroscopy (<sup>1</sup> H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analyses.NMR Biomed2023
37603033Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.J Inherit Metab Dis2023
37446577Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo <sup>1</sup>H-NMR Analysis.Molecules2023
37429829Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.J Inherit Metab Dis2023
36134599Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.J Inherit Metab Dis2023
35148383DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.Brain2022
35379322Clinical implementation of RNA sequencing for Mendelian disease diagnostics.Genome Med2022
35885946Methionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening.Genes (Basel)2022
36054426Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.J Inherit Metab Dis2022
36079864Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.Nutrients2022
34954817Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.Ann Neurol2022
35091320The synthesis of fibroblast growth factor 23 is upregulated by homocysteine in UMR106 osteoblast-like cells.Nutrition2022
33093221Phenylalanine Effects on Brain Function in Adult Phenylketonuria.Neurology2021
33496032Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.J Inherit Metab Dis2021
34943861Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA.Cells2021
34588557The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.Sci Rep2021
34642359Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.Sci Rep2021
34515344Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening.J Inherit Metab Dis2021
34391119The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria.Parkinsonism Relat Disord2021
34344399Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at &lt;⿿4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial.Orphanet J Rare Dis2021
33465056Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.J Clin Invest2021
33274439Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.J Inherit Metab Dis2021
32252669Ammonia and coma - a case report of late onset hemizygous ornithine carbamyltransferase deficiency in 68-year-old female.BMC Neurol2020
32042921Delineating <i>MT-ATP6</i>-associated disease: From isolated neuropathy to early onset neurodegeneration.Neurol Genet2020
32106880Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation.Orphanet J Rare Dis2020
33051224Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening.Pediatrics2020
33396520Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome.Nutrients2020
33176737Citrin deficiency mimicking mitochondrial depletion syndrome.BMC Pediatr2020
32858208Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.Eur J Med Genet2020
32763190Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.Am J Hum Genet2020
32224193Mitochondrial fission factor (MFF) is a critical regulator of peroxisome maturation.Biochim Biophys Acta Mol Cell Res2020
30939602A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy.Neuropediatrics2019
30706953Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria.J Inherit Metab Dis2019
31092906Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.Genet Med2019
29331171The genotypic and phenotypic spectrum of MTO1 deficiency.Mol Genet Metab2018
30025539Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Orphanet J Rare Dis2018
29940663PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.Neuropediatrics2018
29665094Newborn screening: A disease-changing intervention for glutaric aciduria type 1.Ann Neurol2018
29234995Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.J Inherit Metab Dis2018
28065471Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.Am J Hum Genet2017
28274234Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients &lt;4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.Orphanet J Rare Dis2017
29205472Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.Ann Neurol2017
29127204Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects.J Exp Med2017
28905505Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.Hum Mutat2017
28604674Genetic diagnosis of Mendelian disorders via RNA sequencing.Nat Commun2017
26783368Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.J Med Genet2016
26541327Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.J Inherit Metab Dis2016
26642971Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.J Inherit Metab Dis2016
27923773Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions.Cell Metab2016
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Collaborators

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Children's Hospital of Pittsburgh
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Friedrich-Baur-Institut, Ludwig-Maximilians-Universitat Munchen
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Great Ormond Street Hospital for Children NHS Trust
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Institute of Human Genetics, University Medical Center Gottingen
Co-authored papers 2
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IRCCS Bambino Gesu Children's Research Hospital
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Guy's Hospital
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