Maple syrup urine disease associated with nephrotic syndrome in a Filipino child.

Autor: Maceda EBG; Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines egmaceda@up.edu.ph.; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Abadingo ME; Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.; Newborn Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Magbanua-Calalo CJ; Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.; Newborn Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Dator MA; Division of Pediatric Nephrology, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines., Resontoc LPR; Division of Pediatric Nephrology, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines., Castro-Hamoy L; Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Abacan MAR; Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Chiong MAD; Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Biochemistry, Molecular Biology and Nutrition, University of Santo Tomas Faculty of Medicine and Surgery, Manila, Philippines., Estrada SC; Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.

Publikováno v: BMJ case reports [BMJ Case Rep] 2021 Jul 29; Vol. 14 (7). Date of Electronic Publication: 2021 Jul 29.