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Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H. Wasim M, et al. Biochem Genet. 2018 Apr;56(1-2):7-21. doi: 10.1007/s10528-017-9825-6. Epub 2017 Nov 1. Biochem Genet. 2018. PMID: 29094226 Review.
Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria/Methylene Tetrahydrofolate Reductase (MTHFR) deficiency, Tyrosinemia type II, Citr …
Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urin …
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
David J, Chrastina P, Pešková K, Kožich V, Friedecký D, Adam T, Hlídková E, Vinohradská H, Novotná D, Hedelová M, Al Taji E, Holubová A, Skalická V, Macek M, Gaillyová R, Votava F. David J, et al. Cent Eur J Public Health. 2019 Jun;27(2):153-159. doi: 10.21101/cejph.a5441. Cent Eur J Public Health. 2019. PMID: 31241292 Free article.
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-hydrox …
In the Czech Republic (CZ), currently eighteen RD are screened: phenylketonuria/hyperphenylalaninemia (PKU/HPA), congenital hypothyroidism ( …
Utilization of electron microscopy in the prenatal diagnosis of genetic disease.
Wyatt PR, Cox DM. Wyatt PR, et al. Hum Hered. 1977;27(1):22-37. doi: 10.1159/000152849. Hum Hered. 1977. PMID: 403124
The use of electron microscopy as a further method of diagnosis of disease in cultured skin fibroblasts and cultured amniotic fluid fibroblasts is presented. It was demonstrated that Tay-Sachs disease, Fabry's disease, and metachromatic leukodystrophy had dis …
The use of electron microscopy as a further method of diagnosis of disease in cultured skin fibroblasts and cultured amniotic fluid f …
Tandem mass neonatal screening in Taiwan--report from one center.
Huang HP, Chu KL, Chien YH, Wei ML, Wu ST, Wang SF, Hwu WL. Huang HP, et al. J Formos Med Assoc. 2006 Nov;105(11):882-6. doi: 10.1016/S0929-6646(09)60173-X. J Formos Med Assoc. 2006. PMID: 17098689 Free article.
The most common inborn error found was 3-methylcrotonyl CoA carboxylase deficiency (10 cases, 34.5%), but none of the cases needed aggressive treatment. There were two cases of type I glutaric aciduria, two cases of maple syrup urine disease, an …
The most common inborn error found was 3-methylcrotonyl CoA carboxylase deficiency (10 cases, 34.5%), but none of the cases needed aggressiv …
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Wiley V, Carpenter K, Wilcken B. Wiley V, et al. Acta Paediatr Suppl. 1999 Dec;88(432):48-51. doi: 10.1111/j.1651-2227.1999.tb01157.x. Acta Paediatr Suppl. 1999. PMID: 10626578
We have analysed samples from 137 120 consecutive newborns received by the program, requested repeat samples from 122 babies, and found abnormal levels in 17 babies with phenylketonuria, 1 tetrahydrobiopterin deficiency, 3 hyperphenylalaninaemia, 1 maple syrup ur …
We have analysed samples from 137 120 consecutive newborns received by the program, requested repeat samples from 122 babies, and found abno …