47 results on '"Himmelreich, Nastassja"'
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2. Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation
3. Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape
4. Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology
5. Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients
6. Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches
7. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
8. Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
9. Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency
10. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
11. Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
12. Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis
13. Differenzierte Herangehensweise und Testung seltener genetischer Erkrankungen im Kindes- und Jugendalter
14. ADP-dependent glucokinase regulates energy metabolism via ER-localized glucose sensing
15. PATHOGENICITY CLASSIFICATION OF PHENYLALANINE HYDROXYLASE () MISSENSE VARIANTS USING ACMG/AMP/ACGS RECOMMENDATIONS, VARIANT EFFECT PREDICTORS (VEP) AND 3D ANALYSI
16. PREVALENCE OF VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY
17. REDUCED BIOTINIDASE ACTIVITY IN PATIENTS WITH CONGENITAL DISORDERS OF GLYCOSYLATION (CDG): BIOTIN AS A NEW THERAPEUTIC APPROACH?
18. 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.
19. Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations
20. Ex vivo proton spectroscopy ( 1 H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses
21. PATHOGENICITY CLASSIFICATION OF PHENYLALANINE HYDROXYLASE (PAH) MISSENSE VARIANTS USING ACMG/AMP/ACGS RECOMMENDATIONS, VARIANT EFFECT PREDICTORS (VEP) AND 3D ANALYSI
22. PREVALENCE OF DDC VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY
23. Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature
24. Ex vivo proton spectroscopy (1H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses.
25. Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling
26. THE LOCUS-SPECIFIC DATABASE OF VARIANTS CAUSING AROMATIC AMINO ACIDS DECARBOXYLASE (AADC) DEFICIENCY
27. Corrigendum to “Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook” [Mol Genet Metab. 2019 May;127(1):12–22]
28. Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies
29. Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell–cell adhesion
30. Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects
31. Glycosyltransferase POMGNT1 deficiency affects N-cadherin-mediated cell-cell adhesion
32. Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan
33. Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus
34. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
35. The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
36. Cover Image, Volume 40, Issue 4
37. Phenylalanine hydroxylase variants interact with the co‐chaperone DNAJC12
38. Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
39. Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria
40. Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG
41. Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
42. Analyse der Signaltransduktion während der frühen Embryogenese in einem Xenopus laevis- Modell zu ‚PMM2-CDG‘
43. Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.
44. THE DDC LOCUS-SPECIFIC DATABASE OF VARIANTS CAUSING AROMATIC AMINO ACIDS DECARBOXYLASE (AADC) DEFICIENCY.
45. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
46. Ex vivo proton spectroscopy ( 1 H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analyses.
47. Molecular and metabolic bases of tetrahydrobiopterin (BH 4 ) deficiencies.
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