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The complete European guidelines on phenylketonuria: diagnosis and treatment
- A. V. van Wegberg, A. Macdonald, F. V. van Spronsen
- MedicineOrphanet Journal of Rare Diseases
- 12 October 2017
Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant and knowledge gaps are identified which require further research in order to direct better care for the future.
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary…
This analysis shows that the putative secondary/intermediate LHON mutations 4216, 4917, 13708, 15257, and 15812 are ancient polymorphisms, are associated in specific combinations, and define two common Caucasoid-specific haplotypes (haplogroups J and T).
Key European guidelines for the diagnosis and management of patients with phenylketonuria.
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
To recapitulate all available evidence on clinical phenotypes and rational diagnostic and therapeutic approaches for this devastating, but treatable, neurometabolic disorder, 36 patients with tyrosine hydroxylase deficiency were studied and the literature was reviewed.
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.
The mitochondrial DNA of 87 index cases with Leber hereditary optic neuropathy sequentially diagnosed in Italy, including an extremely large Brazilian family of Italian maternal ancestry, was evaluated in detail, suggesting that two specific combinations of amino acid changes in the cytochrome b are the cause of the mtDNA background effect.
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
It is demonstrated that KCNH1 mutations cause ZLS and genetic heterogeneity for this disorder is documented, and structural analysis predicts a perturbing effect of the mutation on complex assembly.
Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree.
Executive function impairment in early-treated PKU subjects with normal mental development
- V. Leuzzi, M. Pansini, I. Antonozzi
- Medicine, PsychologyJournal of Inherited Metabolic Disease
- 1 March 2004
It is concluded that PKU patients, even when treated early, rigorously and continuously, show an impairment of frontal lobe functions and the target of dietary therapy should be to maintain blood Phe concentration below 400 µmol/L.
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood
Infants with classical disease, as well as young adults manifesting as atypical juvenile-onset parkinsonism-dystonia, thereby expanding the disease spectrum, are reported.