Results 161 to 170 of about 114,297 (258)

Leber´s hereditary optic neuroretinopathy [PDF]

, 1993
Toyka, K., Schneider, C., Klopstock, Thomas, Janetzky, B., Seibel, P., Lindner, A., Trappe, J., Reichmann, Heinz   +7 more
core   +1 more source

Poster Session 1

Pregnancy, Volume 2, Issue S2, September 2026.
wiley   +1 more source

Hereditary red cell defects as an underrecognized cause of neonatal jaundice. [PDF]

J Perinatol
Komvilaisak P, Wichajarn K, Laoaroon N, Paopongsawan P, Jirapradittha J, Kiatchoosakun P, Suwannaying K, Sawatjui N, Komwilaisak R, Kachenchat R.   +9 more
europepmc   +1 more source

Poster Session 2

Pregnancy, Volume 2, Issue S2, September 2026.
wiley   +1 more source

Comorbidity of Dengue and Hereditary Spherocytosis in an 18-Year-Old Patient: A Case Report. [PDF]

Cureus
Becerra-Carrillo RI, Mendoza-Maldonado C, Rendón-Aguilar H, Torres-Hernández M, Ochoa-Ramírez L.   +4 more
europepmc   +1 more source

HEREDITARY SPHEROCYTOSIS IN MOTHER AND NEONATE DIAGNOSED BY ANEMIA AND HYPERBILIRUBINEMIA IN THE NEONATE

HEREDITARY SPHEROCYTOSIS IN MOTHER AND NEONATE DIAGNOSED BY ANEMIA AND HYPERBILIRUBINEMIA IN THE NEONATE
We experienced a case of hereditary spherocytosis in both mother and neonate diagnosed by anemia and hyperbilirubinemia in the neonate. Phototherapy was effective against the neonatal jaundice ; however, anemia became severe and necessitated a blood transfusion.
openaire   +1 more source

Poster Session 3

Pregnancy, Volume 2, Issue S2, September 2026.
wiley   +1 more source

A Tarui Disease Phenotype with Compensated Hemolysis and a Homozygous <i>PFKM</i> Variant of Uncertain Significance Mimicking Chronic Myelomonocytic Leukemia. [PDF]

J Clin Med
Neculcea AC, Aanicai R, Massoto B, Nistor RI, Fierbințeanu-Braticevici C, Mambet C, Mititelu A, Neagu AM, Paraschiv C, Popescu M, Severin E, Vlădăreanu AM.   +11 more
europepmc   +1 more source

Poster Session 4

Pregnancy, Volume 2, Issue S2, September 2026.
wiley   +1 more source

Screening of hereditary elliptocytosis caused by <i>SPTB</i> mutations and identification of its association with significant jaundice among Thai neonates. [PDF]

BMJ Paediatr Open
Rattanaseksan K, Tangbubpha N, Kadegasem P, Khlangtan T, Kongurai P, Emrat K, Sirachainan N, Pongmee P, Songdej D.   +8 more
europepmc   +1 more source