Results 271 to 280 of about 1,386,180 (335)

IGCP 580, 4th Annual meeting, Graz 23-30 June 2012

open access: green, 2012
Ewa Maria Kido   +5 more
openalex   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson   +3 more
wiley   +1 more source

Phosphorus. [PDF]

open access: yesAdv Nutr
Calvo MS, Uribarri J.
europepmc   +1 more source

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