Publication Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.
Publication The limitations of sweat electrolyte reference intervals for the diagnosis of cystic fibrosis: a systematic review.
Publication The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study.
Publication Safety and efficacy of transition from subcutaneous treprostinil to oral sildenafil in patients with pulmonary arterial hypertension.
Publication Probability of Compatible Heart Donors Arising within Specified Times According to Weight of Recipient
Publication Parietal disruption impairs reflexive spatial attention within and between sensory modalities.
Publication Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: a case report.
Publication Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).
