Results 101 to 110 of about 5,107 (173)

A 25-Year Retrospective on Bavaria's Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up. [PDF]

Int J Neonatal Screen
Nennstiel U, Brockow I, Odenwald B, Marzi C, Hanauer M, Maier E, Röschinger W, Fingerhut R, Liebl B.   +8 more
europepmc   +1 more source

Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency. [PDF]

BMC Pediatr
Sánchez-Pintos P, Camba-Garea MJ, López-Pardo BM, de Juan JAC, Bóveda MD, Barbosa-Gouveia S, Vázquez-Mosquera ME, Barros-Angueira F, Patiño RF, Couce ML.   +9 more
europepmc   +1 more source

GNE myopathy with premature ovarian failure: Case report and review of the literature. [PDF]

Mol Genet Metab Rep
Yang S, Yang J.
europepmc   +1 more source

Implementing and validating newborn screening for inborn errors of metabolism in South India: a 2-year observational study at a tertiary care hospital. [PDF]

BMJ Public Health
Chikkalingaiah MH, Bevinakoppamath S, Archana SS, Kapa A, Kempegowda SN, Shivashankar KK, Ramachandra SC, K Basavarajaiah S, Nataraj S, Prashant A.   +9 more
europepmc   +1 more source

Neonatal Hydrops and Biliary Atresia as an Early Presentation of Mevalonate Kinase Deficiency: A Case Report. [PDF]

Cureus
Almomani SA, Ponnambath HIC, Yahya A.
europepmc   +1 more source

Adult-Onset Fanconi Syndrome Presenting as Stress Fractures: A Case Report. [PDF]

J Orthop Case Rep
Gupta S, Kamat N, Shenoy DV, Agarwal S.
europepmc   +1 more source

Repositorio de tamizaje neonatal, una herramienta para la toma de decisiones en salud pública. [PDF]

Biomedica
Hidalgo AM, Fuya OP, Martínez DP.
europepmc   +1 more source

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. [PDF]

Orphanet J Rare Dis
Douillard C, Poujois A, Belmatoug N, Lidove O, Leguy-Seguin V, Mauhin W, Gorce M, Cano A, Labrune P, Mazodier K, Wicker C, Maillot F, Brassier A, Guemann AS, Habes D, Abi-Warde MT, Redonnet-Vernhet I, Germain DP, Lavigne C, Khemiri A, Mention K, Dao M, Héron B, Berger MG, Lonlay P.   +24 more
europepmc   +1 more source

Unfolding the genetic map of monogenic liver diseases in Egypt. [PDF]

Hum Genet
El-Karaksy H, Mogahed EA, Baroudy S, Ghita H, Enayet A, El-Sharkawy M, Radwan NA, Hosny H, Elmonem MA.   +8 more
europepmc   +1 more source