458 results on '"Freisinger, Peter"'
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2. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
3. Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
4. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
5. Clinical implementation of RNA sequencing for Mendelian disease diagnostics
6. The synthesis of fibroblast growth factor 23 is upregulated by homocysteine in UMR106 osteoblast-like cells
7. Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
8. Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
9. Mitochondriopathien
10. The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria
11. Genetic landscape of pediatric acute liver failure of indeterminate origin
12. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
13. Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
14. Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders
15. The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
16. Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial
17. Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
18. Genetic landscape of pediatric acute liver failure of indeterminate origin
19. Clinical outcomes and survival of individuals with methylmalonic acidemia, propionic acidemia, classic homocystinuria, and remethylation disorders identified through newborn screening
20. Mitochondriopathien
21. Phenylalanine effects on brain function in adult phenylketonuria
22. Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration
23. Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4
24. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
25. Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
26. Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis
27. Ammonia and coma – a case report of late onset hemizygous ornithine carbamyltransferase deficiency in 68-year-old female
28. Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation
29. Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency
30. Mitochondriopathien
31. Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions
32. Störungen des Energiestoffwechsels
33. Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
34. Mitochondriopathien
35. Ex vivo proton spectroscopy ( 1 H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses
36. Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening
37. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
38. Biallelic variants in WARS2 encoding mitochondrial tryptophanyl‐tRNA synthase in six individuals with mitochondrial encephalopathy
39. Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1 H-NMR Analysis.
40. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
41. Impact of age at onset and newborn screening on outcome in organic acidurias
42. Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
43. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
44. Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
45. Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
46. Methionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening
47. Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
48. Clinical implementation of RNA sequencing for Mendelian disease diagnostics
49. Ex vivo proton spectroscopy (1H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses.
50. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
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