DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified - Wong, Tsz Sum; Wong, Sheila Suet Na; Kwok, Anne Mei Kwun; Wu, Helen; Law, Hiu Fung; Lam, Shirley; Yeung, Matthew Chun Wing; Chan, Toby Chun Hei; Leung, Gordon; Mak, Chloe Miu; Belaramani, Kiran Moti; Fung, Cheuk Wing (International journal of neonatal screening, 2024)
Keywords: Age; Asymptomatic; Case Report; Diagnostic tests; DNAJC12 deficiency; Dopamine; Dystonia; Health aspects; Hong Kong; Hydroxylases; hyperphenylalaninemia; Infants (Newborn); Language acquisition; Mass spectrometry; Medical research; Medical screening; Medicine, Experimental; Metabolic disorders; Neurotransmitters; newborn screening; Patients; Phenylalanine; Phenylketonuria; Plasma; Sapropterin dihydrochloride; Scientific imaging; Urine; China; Hong Kong, China; Hong Kong China; Hong Kong; DNAJC12 deficiency; hyperphenylalaninemia; newborn screening