Results 181 to 190 of about 114,297 (258)

[Hereditary erythrocyte enzymopathies in newborn infants with hyperbilirubinemia].

Boletin medico del Hospital Infantil de Mexico, 1985
A L, Velázquez, N G, Rico, B, Ibarra, R, Blancarte, J, Cardosa, S, Fonseca, E, Maldonado, M A, Enríquez, C, Medina, J M, Cantú   +9 more
openaire   +1 more source

Hereditary Hemolytic Spherocytosis in the Active-Duty Population: A Unique Case. [PDF]

Cureus
Ahn D, Berenberg J.
europepmc   +1 more source

Familial Hereditary Hemorrhagic Telangiectasia with Stroke in Two Generations: Diagnostic Delay and the Role of Patient-Specific Three-Dimensional-Printed Models in Endovascular Planning. [PDF]

Acta Cardiol Sin
Chao KY, Chen CY, Chu YZ, Lîm HK, Mu SC, Chien YH.   +5 more
europepmc   +1 more source

Resolving a Complex Neonatal Phenotype by Rapid Trio Whole-Genome Sequencing: A De Novo 11q14.3-q22.3 Deletion and a Splicing-Altering Synonymous ANK1 Variant. [PDF]

J Clin Lab Anal
Lee HW, Jang JH, Lee BH, Youk HJ, Kim ES, Cho KH, Chang YS, Jo HS, Jang MA.   +8 more
europepmc   +1 more source

A LASSO-based nomogram for predicting acute bilirubin encephalopathy in newborns with severe hyperbilirubinemia. [PDF]

Front Pediatr
Hu Q, Yao Z, Zhu H, Feng X, Li H.
europepmc   +1 more source

Curing the “Incurable”: First Successful Hematopoietic Stem Cell Transplantation in Severe Hereditary Spherocytosis with Homozygous <i>SPTA1</i> Variant and Hepatic Fibrosis [PDF]

Turk J Haematol
Koçak Göl D, Işık E, Gök V, Özcan A, Yılmaz E, Ünal E, Karakükcü M.   +6 more
europepmc   +1 more source

An Unusual Presentation of Gilbert Syndrome. [PDF]

ACG Case Rep J
Chilakala A, Davis BG, Goldman M, Mukhtar NA.   +3 more
europepmc   +1 more source

Transient Unexplained Severe Acute Hyperbilirubinaemia and Cholestasis in a Patient With Hereditary Spherocytosis. [PDF]

Case Reports Hepatol
Richardson J, Johnston M, Sefcick A, Oien K.   +3 more
europepmc   +1 more source

Living-donor liver transplantation in children with inherited metabolic and genetic cholestatic liver diseases: a single-center retrospective cohort study. [PDF]

Orphanet J Rare Dis
Liu H, Chen Z, Li W, Huxitaer H, Maimaiti G, Maimaijiang A, Jiayilawu Y, Habuding A, Xi R, Wang H, Song F.   +10 more
europepmc   +1 more source

Prevalence, knowledge, awareness, attitudes, perceptions and practices of G6PD deficiency among mothers, children and pregnant women. [PDF]

J Public Health Res
Asiedu C, Asiedu EFO, Johnson E, Bilson SE.   +3 more
europepmc   +1 more source