Results 91 to 100 of about 870 (139)

Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions. [PDF]

Int J Neonatal Screen
Monostori P, Szatmári I, Baráth Á, Bókay J, Csenki M, Galla Z, Gellén B, Grecsó N, Gyüre E, Halász Z, Hegedűs K, Kincs J, Kiss E, Kósa M, Lénárt I, Pálmay A, Rácz G, Szabó H, Szabó L, Tőkési V, Xue A, Zsidegh P, Szabó AJ, Bereczki C.   +23 more
europepmc   +1 more source

Reshaping the Treatment Landscape of a Galactose Metabolism Disorder. [PDF]

J Inherit Metab Dis
Rubio-Gozalbo ME, Naomi Vos E, Rivera I, Lai K, Berry GT.   +4 more
europepmc   +1 more source

Hypomyelination With Congenital Cataract: A Rare Genetic Leukodystrophy. [PDF]

Cureus
Bhimanadham VM, Panicker GJ.
europepmc   +1 more source

Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes. [PDF]

Int J Neonatal Screen
Jamaleddin T, El-Akouri K, Abiib S, Mitri R, Ramaswamy M, Musa S, Ali R, Shahbeck N, Al Rifai H, Abdoh G, Ben-Omran T, Al-Dirbashi OY, Al-Shafai M.   +12 more
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

The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants. [PDF]

Int J Mol Sci
Gug M, Andreescu N, Caba L, Popoiu TA, Mozos I, Gug C.   +5 more
europepmc   +1 more source

Classic Galactosemia: Indian Scenario.

Indian pediatrics, 2016
Sheila, Bhave, Ashish, Bavdekar
openaire   +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

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

Integrative multi-omics analysis reveals gut-skin axis mechanisms and novel therapeutic target <i>GALE</i> in atopic dermatitis. [PDF]

mSystems
Cao F, Liu A, Tong J, Guo C, Zhang H, Pang Y, Tang K, Yu Q, Guo J.   +8 more
europepmc   +1 more source