Metabolic Acidosis—Diabetic

Nuttall, Frank Q.

doi:10.1001/archinte.1965.03870050063010

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B Solute Carrier 16: the Monocarboxylate Transporter Family1

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1967

2019

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Cited by 4 publications

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“…In two independent studies, homozygous and heterozygous SLC16A1 loss-of-function gene mutations were linked to recurrent, severe ketoacidosis in humans (van Hasselt et al, 2014;Balasubramaniam et al, 2016). Ketoacidosis is caused by excess circulating ketone bodies in the face of insulinopenia and is generally a severe complication of diabetes (Nuttall, 1965;Winegrad and Clements, 1971). Targeted exome sequencing in an index patient and her family members revealed nine rare SLC16A1 variants (van Hasselt et al, 2014).…”

Section: B Solute Carrier 16: the Monocarboxylate Transporter Familymentioning

confidence: 99%