Chanika Phornphutkul

Natural History of Alkaptonuria

Chanika Phornphutkul, Wendy J. Introne, Monique B. Perry et al. · New England Journal of Medicine · 2002 · 655 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

Permanent Neonatal Diabetes due to Mutations in <i>KCNJ11</i> Encoding Kir6.2

Jørn V. Sagen, Helge Ræder, Eba Hathout et al. · Diabetes · 2004 · 334 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The emerging phenotype of long-term survivors with infantile Pompe disease

Sean N. Prater, Suhrad G. Banugaria, Stephanie DeArmey et al. · Genetics in Medicine · 2012 · 191 citations

Life Sciences, Neuroscience, Pediatrics +4

Congenital Hypothyroidism with a Delayed Thyroid-Stimulating Hormone Elevation in Very Premature Infants: Incidence and Growth and Developmental Outcomes

Hyung Woo, Ariel Lizarda, Richard Tucker et al. · The Journal of Pediatrics · 2011 · 137 citations

Medicine, Endocrinology, Pediatrics +17

Long-term follow-up of well-treated nephropathic cystinosis patients

Robert Kleta, Isa Bernardini, Masako Ueda et al. · The Journal of Pediatrics · 2004 · 137 citations

Medicine, Nephrology, Pathology +3