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1.
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Hum Mutat
; 41(3): 641-654, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31769566
2.
Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia.
Mol Genet Metab Rep
; 31: 100859, 2022 Jun.
Article
in English
| MEDLINE | ID: mdl-35782626
3.
Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned.
Mol Genet Metab Rep
; 33: 100942, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-36466970
4.
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I.
JIMD Rep
; 43: 71-77, 2019.
Article
in English
| MEDLINE | ID: mdl-29654546
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