| Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, Jasmine Chi Kwan Chow, Eric Kin Cheong Yau, Antony Fu, Josephine Shuk Ching Chong, Ho Chung Yau, Grace Wing Kit Poon, Kwok Leung Ng, Kwong Tat Chan, Yuen Yu Lam, Joannie Hui, Chloe Miu Mak, Cheuk Wing Fun. Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey. International journal of neonatal screening. vol 10. issue 1. 2024-03-27. PMID:38535127. |
false negative cases were reported for citrullinemia type ii and congenital adrenal hyperplasia during this period. |
2024-03-27 |
2024-03-29 |
Not clear |
| Jan David, Petr Chrastina, Karolina Pešková, Viktor Kožich, David Friedecký, Tomáš Adam, Eva Hlídková, Hana Vinohradská, Dana Novotná, Monika Hedelová, Eva Al Taji, Andrea Holubová, Veronika Skalická, Milan Macek, Renata Gaillyová, Felix Votav. Epidemiology of rare diseases detected by newborn screening in the Czech Republic. Central European journal of public health. vol 27. issue 2. 2019-07-01. PMID:31241292. |
in the czech republic (cz), currently eighteen rd are screened: phenylketonuria/hyperphenylalaninemia (pku/hpa), congenital hypothyroidism (ch), congenital adrenal hyperplasia (cah), cystic fibrosis (cf), medium chain acyl-coa dehydrogenase deficiency (mcadd), long chain 3-hydroxyacyl-coa dehydrogenase deficiency (lchadd), very long chain acyl-coa dehydrogenase deficiency (vlcadd), carnitine palmitoyl transferase i and ii deficiency (cptid, cptiid), carnitine-acylcarnitine translocase deficiency (cactd), maple syrup urine disease (msud), glutaric aciduria type i (ga i), isovaleryl-coa dehydrogenase deficiency (iva), argininemia (arg), citrullinemia (cit), biotinidase deficiency (btd), cystathionine beta-synthase-deficient homocystinuria (cbsd hcu), and methylenetetrahydrofolate reductase deficiency homocystinuria (mthfrd hcu). |
2019-07-01 |
2023-08-13 |
Not clear |