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Suggested guidelines for the diagnosis and management of urea cycle disorders
These guidelines aim at providing a trans-European consensus to guide practitioners, set standards of care and help awareness campaigns, and help to harmonise practice, set common standards and spread good practices with a positive impact on the outcomes of UCD patients.
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
- A. Schulze, M. Lindner, D. Kohlmüller, Katharina Olgemöller, E. Mayatepek, G. Hoffmann
- 1 June 2003
The screening by MS/MS for up to 23 additional disorders has approximately doubled the detection rate compared with that achieved by the conventional methods used in Germany.
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
- J. Häberle, A. Burlina, C. Dionisi-Vici
- MedicineJournal of inherited metabolic disease
- 1 November 2019
This revised guideline for diagnosis and therapy of urea cycle disorders will have a positive impact on the outcomes of patients by establishing common standards, and spreading and harmonizing good practices, and may also promote the identification of knowledge voids to be filled by future research.
Molecular genetics of tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency
Genotype analysis of 315 BH4‐responsive patients and comparison with the data from the PAHdb locus‐specific knowledgebase, as well as with previously published PAH mutations for several European countries, Northern China, and South Korea, suggest that BH 4‐responsiveness may be more common than assumed and to some extent may be predicted or excluded from the patient's genotype.
Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
BACKGROUND Autosomal recessive mutations in deoxyguanosine kinase (DGUOK) have been identified in the hepatocerebral form of mitochondrial DNA (mtDNA) depletion syndrome. OBJECTIVES To describe the…
Clinical presentation and outcome in a series of 88 patients with the cblC defect
- S. Fischer, M. Huemer, C. Dionisi-Vici
- Medicine, PsychologyJournal of Inherited Metabolic Disease
- 6 March 2014
The survey points to the need for prospective studies in a large cohort using agreed treatment modalities and monitoring criteria to determine the long-term neurological and ophthalmological outcome of cblC patients.
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
- S. Grünert, S. Müllerleile, J. Sass
- Medicine, PsychologyOrphanet Journal of Rare Diseases
- 10 January 2013
The data show that the outcome of propionic acidemia is still unfavourable, in spite of improved clinical management, and that Impairment of neurocognitive development is of special concern.
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting
The accumulated evidence suggests all FAOD should to be included into tandem mass spectrometry (MS/MS)-based NBS programs provided sufficient laboratory performance is guaranteed.
Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *
Optimal outcome is achieved especially for the large subgroup of patients with medium-chain acyl-CoA dehydrogenase deficiency and physical and cognitive outcome in patients with presymptomatic diagnosis of metabolic disorders included in the current German screening panel is equally good as in phenylketonuria.