@article {Buzakuk150, author = {Buthaina Buzakuk and Judith van der Voort}, title = {Metabolic mayhem. The advantage of keeping your nose both in the books and in the nappy!}, volume = {107}, number = {2}, pages = {150--155}, year = {2022}, doi = {10.1136/archdischild-2019-318477}, publisher = {Royal College of Paediatrics and Child Health}, abstract = {This case presentation takes you on a journey of diagnostic hurdles, covering a common neonatal presentation: abdominal distention with failure to pass meconium, followed by a presentation in infancy with metabolic, renal and electrolyte abnormalities. The article provides a systematic approach to the different clinical problems, allowing interpretation of results, making differential diagnoses and deciding on investigations and management.}, issn = {1743-0585}, URL = {https://ep.bmj.com/content/107/2/150}, eprint = {https://ep.bmj.com/content/107/2/150.full.pdf}, journal = {Archives of Disease in Childhood - Education and Practice} }