Results 91 to 100 of about 5,107 (173)

Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers. [PDF]

Orphanet J Rare Dis
Ijaz A, Abbas S, Shabbir M, Badshah Y, Abid F, Afsar T, Razak S.   +6 more
europepmc   +1 more source

Rethinking Newborn Screening: A Case of GALM Deficiency. [PDF]

Int J Neonatal Screen
van Konijnenburg EMMH, Radenkovic S, Koop K, Prinsen HCMT, de Sain-van der Velden M.   +4 more
europepmc   +1 more source

A rare cause of neonatal cholestasis: congenital portosystemic shunt. [PDF]

Proc (Bayl Univ Med Cent)
Turhan R, Köker N, Aydoğan S, Karhan AN, Çınar HG.   +4 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

Galactosemia among Positive-screened Patients who Underwent Lactose Challenge: A Review of Records of the Newborn Screening Program. [PDF]

Acta Med Philipp
Orteza MEV, Abacan MAR.
europepmc   +1 more source

Results of the ACTION-Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia. [PDF]

J Clin Pharmacol
Bailey E, Phan H, Ahmad A, Thomas J, Ames EG, Pritchard AB, Quinonez SC, Wang S, Dayley C, Salt A, Pick C, Durrant A, Johnson S, Nicodemus-Johnson J, Dickson SP, Perfetti R, Hendrix SB, Shendelman S.   +17 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

Patterns of Penetrance and Expressivity of Long-Term Outcomes in Classic Galactosemia. [PDF]

J Inherit Metab Dis
Smith NH, Garrett OS, Hendrickson E, Druss JJ, Fridovich-Keil JL.   +4 more
europepmc   +1 more source

International Survey on Phenylketonuria Newborn Screening. [PDF]

Int J Neonatal Screen
Trampuž D, Schielen PCJI, Zetterström RH, Scarpa M, Feillet F, Kožich V, Tangeraas T, Drole Torkar A, Mlinarič M, Perko D, Remec ŽI, Lampret BR, Battelino T, Isns Study Group On Pku, van Spronsen FJ, Bonham JR, Grošelj U.   +16 more
europepmc   +1 more source

Maternal and Fetal Outcomes of Pregnancies in Wilson's Disease: A Single-Centre Real-Life Experience. [PDF]

Turk J Gastroenterol
Demir K, Çifcibaşı Örmeci A, Çavuş B, İstemihan Z, Genç S, Atasoy A, Akyüz F, Beşışık F, Kaymakoğlu S.   +8 more
europepmc   +1 more source