eingelangte Reviews

Einträge 1 - 25 von insgesamt 54

 Code  Titel Kommentar Bewertung ReviewerID Reviewer Name
A case of glutaric aciduria type III (GA-III)Mathias Woidy
A spoonful of L-fucose - An efficient therapy for GFUS-CDG, a new glycosylation disorderSaskia Wortmann
AMPA receptor dysregulation as a possible cause of stiff-baby-syndromeNadja Kaiser
Analysing immune response to enzyme replacement therapy in patients with CLN2 diseaseLena Marie Westermann
Biallelic variants in GZF1 and VPS45 lead to Larsen syndrome and Congenital Disorders of Glycosylation (CDG)Kristina Falkenstein
Case report: Use of glycomacropeptide as a single protein supplement in a pregnancy of a patient with phenylketonuriaVanessa Dr. Kock
Cataracts and diarrhea of unknown cause: think of the treatable leukodystrophy Cerebrotendinous Xantomatosis (CTX) !Annette Bley
CDG-IIb syndrome: In-depth glycomic characterization of a novel patient using xCGE-LIFJulia Beimdiek
Challenges facing patients in PKU therapy and experience in support patientsAlexandra von Hopffgarten
Cognitive long-term outcome of early diagnosed individuals with glutaric aciduria type 1 – a national prospective study over 20 yearsEva Marie Charlotte Märtner
Congenital lactase deficiency: Molecular and cellular analysis of intestinal lactase-phlorizin hydrolase gene variantsLara Marten
Dietary therapy of PKU: Sirtuin-activity in glycomacropeptide-based products and classical amino acid mixturesLaura Stahmer
Dietary therapy of PKU: Sirtuin-activity in glycomacropeptide-based products and classical amino acid mixturesAnibh Martin Das
Differences of phenylalanine levels in dried blood spots and in plasma: Erythrocytes as a neglected component for this observationDorothea Haas
Early prediction of disease severity in cytosolic Urea Cycle DisordersMatthias Zielonka
Effect of ketogenic diet treatment on cellular lipids in murine hippocampal neuronsPartha Dabke
Endothelial Colony Forming Cells as a primary cell model of Fabry diseaseSilvija Tokic
Evaluation of the family burden of parents of children with urea cycle defectsMara Scharping
Flavin adenine dinucleotide (FAD)-dependent oxidoreductase domain-containing protein 1 (FOXRED1) Deficiency: Clinical spectrum and possible treatment optionsVanessa Dr. Kock
Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolismDaniel Schulke
Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treatedUlrike Mütze
HPDL-associated neurological disease - current knowledge and further evidence for a mitochondrial disease-like phenotypeRalf Husain
IEMbase: An online knowledge base and mini-expert tool for the diagnosis of inborn errors of metabolismNenad Blau
Impact of Fabry disease on mitochondrial homeostasis in renal epithelial cellsAnke Schumann
Improved Motor Function in Children With AADC (AADC) Deficiency Treated with Eladocagene Exuparvovec (PTC-AADC): Interim Findings From a Phase 1/2 StudyNicolai Marroquin
 Code  Titel Kommentar Bewertung ReviewerID Reviewer Name