Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population

Microbial Regulation of Host Physiology by Short-chain Fatty Acids

(2021) Bart van der Hee et al.   TRENDS IN MICROBIOLOGY

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

(2021) Sonia Pajares et al.   Orphanet Journal of Rare Diseases

Incidence of inborn errors of metabolism detected by tandem mass spectrometry in China: A census of over seven million newborns between 2016 and 2017

(2020) Kui Deng et al.   JOURNAL OF MEDICAL SCREENING

Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature

(2019) Francesco Porta et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population

(2019) Yiming Lin et al.   CLINICA CHIMICA ACTA

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population

(2019) Ting Wang et al.   Frontiers in Genetics

Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency

(2019) Yiming Lin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

(2018) Kejian Guo et al.   Frontiers in Genetics

Challenges for Worldwide Harmonization of Newborn Screening Programs

(2016) E. Martinez-Morillo et al.   CLINICAL CHEMISTRY

Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges

(2016) Zabedah Md. Yunus et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution

(2016) Wei-Xia Lin et al.   Scientific Reports

Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency

(2014) L. Yang et al.   CLINICAL GENETICS

Spectrum Analysis of Common Inherited Metabolic Diseases in Chinese Patients Screened and Diagnosed by Tandem Mass Spectrometry

(2014) Lianshu Han et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8year journey from pilot to current program

(2014) J.S. Lim et al.   MOLECULAR GENETICS AND METABOLISM

Inborn errors of metabolism and expanded newborn screening: review and update

(2013) Chloe Miu Mak et al.   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

Suggested guidelines for the diagnosis and management of urea cycle disorders

(2012) Johannes Häberle et al.   Orphanet Journal of Rare Diseases

Phenylalanine hydroxylase deficiency

(2011) John J. Mitchell et al.   GENETICS IN MEDICINE

Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting

(2010) Martin Lindner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals

(2010) David C. Kasper et al.   WIENER KLINISCHE WOCHENSCHRIFT

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

(2009) B. Wilcken et al.   PEDIATRICS

Neonatal screening for congenital hypothyroidism and phenylketonuria in China

(2009) Jian-Ying Zhan et al.   World Journal of Pediatrics

Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests

(2008) G. la Marca et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

(2008) S.E. Waisbren et al.   MOLECULAR GENETICS AND METABOLISM

Newborn screening

(2008) Bridget Wilcken et al.   PATHOLOGY