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The 2017 international classification of the Ehlers–Danlos syndromes
TLDR
The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes, and revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders.
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Phenylketonuria mutations in Europe
TLDR
A systematic review of the molecular genetics of PKU in Europe identified 29 mutations that may be regarded as prevalent in European populations and comprehensive regional data for these mutations were collated from all available studies.
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A survey of tools for variant analysis of next-generation genome sequencing data
TLDR
A comprehensive survey and evaluation of NGS tools provides a valuable guideline for human geneticists working on Mendelian disorders, complex diseases and cancers.
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A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
TLDR
The classification of 105 PAH mutations may allow the prediction of the biochemical phenotype in >10,000 genotypes, which may be useful for the management of hyperphenylalaninemia in newborns.
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Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1.
TLDR
A trinucleotide repeat in exon 2 of the CNDP1 gene, coding for a leucine repeat in the leader peptide of the carnosinase-1 precursor, was associated with nephropathy.
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Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
TLDR
Maintenance of optimal PLP levels in the brain may be important in many neurological disorders in which neurotransmitter metabolism is disturbed (either as a primary or as a secondary phenomenon).
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Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency
TLDR
It is demonstrated that timely diagnosis in neurologically asymptomatic patients followed by treatment with l-carnitine and a lysine-restricted diet was the best predictor of good outcome, whereas treatment efficacy was low in patients diagnosed after the onset of neurologic disease.
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MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls
TLDR
It is concluded that the novel multiplex ligation-dependent probe amplification (MLPA) method is a highly sensitive and rapid alternative to multiplex PCR and can be used on blood samples, chorionic villi and paraffin-embedded tissue.
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Molecular genetics of tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency
TLDR
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.
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Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
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