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Transcranial electrical stimulation (tES) mechanisms and its effects on cortical excitability and connectivity
Free accessOnline Contents | 2018| -
Blood–brain barrier structure and function and the challenges for CNS drug delivery
Online Contents | 2013| -
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
Free accessOnline Contents | 2018| -
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes
Free accessOnline Contents | 2017| -
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
Free accessOnline Contents | 2016| -
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Free accessOnline Contents | 2016| -
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
Free accessOnline Contents | 2017| -
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome
Free accessOnline Contents | 2016| -
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations
Free accessOnline Contents | 2018| -
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
Online Contents | 2017| -
Whole exome sequencing of suspected mitochondrial patients in clinical practice
Free accessOnline Contents | 2015| -
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders
Online Contents | 2016| -
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
Free accessOnline Contents | 2015|
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