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NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 7, p. 2169, doi. 10.1007/s11011-021-00827-z
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- Article
Zasady postępowania diagnostycznego i opieki nad chorymi z wrodzonym niedoborem alfa-1 antytrypsyny.
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- Polish Pneumonology & Allergology / Pneumonologia i Alergologia Polska, 2016, v. 84, p. 29, doi. 10.5603/PiAP.2016.0023
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- Publication type:
- Article
Standards for diagnosis and care of patients with inherited alpha-1 antitrypsin deficiency.
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- Polish Pneumonology & Allergology / Pneumonologia i Alergologia Polska, 2016, v. 84, n. 3, p. 193, doi. 10.5603/PiAP.2016.0023
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- Article