Results 141 to 150 of about 580,128 (341)

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa   +2 more
wiley   +1 more source

Alloimmunization among transfusion-dependent thalassemia patients

open access: yesAsian Journal of Transfusion Science, 2009
Background: Thalassemia is a common hemoglobin disorder in Iran and one of the major public health problems. Although blood transfusions are lifesavers for thalassemia patients, they may be associated with some complications especially erythrocyte ...
Sadeghian Mohammad   +6 more
doaj  

A Study of Rate Unnecessary Blood And Blood Products Transfusion To Patients Bedridden In Ardebil’s Dr Fatemi Hospital, During First Six Month Of 1382 (2003) [PDF]

open access: yes
Introduction: Most of the Persons Who need blood and blood products transfusion, are the critic cases under blood therapy for their bleeding, blood disease, clotting disorders, Platlet Problems and so on. Considering the Problems and high Price of safe
اعظمی, احد   +3 more
core  

Seroprevalence of HIV, HBV, HCV and Syphilis in Blood Donors in Saurashtra Region of Gujarat: Declining Trends Over a Period of 3½ Years [PDF]

open access: yes, 2012
Background: Transfusion of blood and blood products is a life saving intervention and benefits innumerous patients worldwide. At the same time it could be an ominous mode of infection transmission to recipients.
Agravat, AH, Dhruva, GA, Pujara, KM
core   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo   +4 more
wiley   +1 more source

Transfusions of packed red blood cells in the pathology of newborn

open access: yesJournal of Education, Health and Sport, 2019
Sick newborns are at present the largest group of patients receiving blood products. Therefore packed red blood cells transfusion is one of the most common procedures performed in Intensive Care Units.
Paulina Trojanowska   +5 more
doaj  

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