Anita Inwood

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2016 · 147 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

David Coman, Lisenka E.L.M. Vissers, Lisa G. Riley et al. · The American Journal of Human Genetics · 2018 · 41 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +16

Overcoming the barriers to diagnosis of Morquio A syndrome

Kaustuv Bhattacharya, Shanti Balasubramaniam, Yew Sing Choy et al. · Orphanet Journal of Rare Diseases · 2014 · 31 citations · Full text

Medicine, Pediatrics, Diagnostic Reasoning +11

Psychosocial functioning in children with phenylketonuria: Relationships between quality of life and parenting indicators

Alina Morawska, Amy E. Mitchell, Evren Etel et al. · Child Care Health and Development · 2019 · 29 citations

Medicine, Child Health, Pediatrics +9

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Annemiek M. J. van Wegberg, Friedrich K. Trefz, Maria Giżewska et al. · The Journal of Pediatrics · 2021 · 18 citations · Full text

Medicine, Genetics, Pediatrics +14