Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations

(2019) Wei Zhou et al.   Frontiers in Genetics

Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil

(2019) Nara O. Carvalho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients

(2019) Ken Momosaki et al.   JOURNAL OF HUMAN GENETICS

Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China

(2018) Zongjie Hao et al.   PLoS One

Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population

(2018) Bin Yu et al.   Frontiers in Genetics

Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders

(2017) Majid Alfadhel et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review

(2017) Brahim Tabarki et al.   NEUROPEDIATRICS

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

(2016) Mohamed Abouelhoda et al.   GENETICS IN MEDICINE

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

(2015) Juan Darío Ortigoza-Escobar et al.   BRAIN

Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone

(2015) Brahim Tabarki et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Stress-Induced Upregulation of SLC19A3 is Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease

(2013) Anne Schänzer et al.   BRAIN PATHOLOGY

Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

(2013) Majid Alfadhel et al.   Orphanet Journal of Rare Diseases

Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3 Mutations

(2010) Rabab Debs et al.   ARCHIVES OF NEUROLOGY

Improving and Assuring Newborn Screening Laboratory Quality Worldwide: 30-Year Experience at the Centers for Disease Control and Prevention

(2010) Víctor R. De Jesús et al.   SEMINARS IN PERINATOLOGY

Mutations in a Thiamine-Transporter Gene and Wernicke's-like Encephalopathy

(2009) Satoshi Kono et al.   NEW ENGLAND JOURNAL OF MEDICINE