Vijith Puthi

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SUSANNE E. BOONEN, MD, PHD DEBORAH J.G. MACKAY, PHD JOHANNE M.D. HAHNEMANN, MD, PHD LOUISE DOCHERTY, PHD KAREN GRØNSKOV, PHD ANNA LEHMANN, PHD LISE G. LARSEN, MD ANDREAS P. HAEMERS , MD YVES KOCKAERTS, MD LUTGARDE DOOMS, MD D~ uNG CH I V~ u, MD C.T. BICH NGOC, MD PHUONG BICH NGUYEN, MD OLGA KORDONOURI, MD FRIDA SUNDBERG, MD PINAR DAYANIKLI, MD, FAAP VIJITH(More)
CONTEXT Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken. OBJECTIVE Our(More)
OBJECTIVE Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL). This has consequences for patient care because it has impact on the phenotype and recurrence risk for(More)
1. Concentrated urine (increased ammonical smell); urine infections; diabetes (sweet-smelling urine); eating certain foods (e.g., asparagus); liver disorders; genetic conditions (phenylketonuria, maple syrup urine disease); metabolic (trimethylaminuria). 2. In view of the patient describing his urine as having a fishy smell: Fish-odor syndrome was suspected(More)
A healthy 14-year-old boy presented to the outpatient department with a 6-year history of foul, fishy-smelling urine and body odor. He was being bullied at school, and his relatives had also noted the odor. He had no other urinary symptoms. His bowel habits were normal. Fluid intake was in excess of 6 cups of fluid per day and micturition was regular. There(More)
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