Results 71 to 80 of about 19,660 (221)

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Free sialic acid storage disorder (FSASD) is a lysosomal storage disorder that results from biallelic pathogenic variants in the SLC17A5 gene. This gene codes for sialin, a 12‐transmembrane domain protein that exports the charged sugar N‐acetylneuraminic acid (Neu5Ac; sialic acid) out of the lysosome.
Zoe Wolfenson, Gabriella Grois, Ruth F. Hailemeskel, Marla Sabaii, Laryssa A. Huryn, Wadih M. Zein, Tanya Lehky, Audrey Thurm, Lisa Joseph, Eva H. Baker, Gilbert Vezina, Keith Hyland, Laura Pollard, Ellen Macnamara, Andrea Gropman, May C. Malicdan, William A. Gahl, David R. Adams, Lynne Wolfe   +18 more
wiley   +1 more source

Characteristics of Hearing Impairment in Patients with Suspected Congenital Rubella Syndrome at the ENT Clinic of Prof. Dr. I.G.N.G Ngoerah Hospital Denpasar, Indonesia

Journal of Community Medicine and Public Health Research
Asymptomatic rubella virus infection can cause delays in the diagnosis of rubella in pregnant women, leading to the development of congenital rubella syndrome (CRS). The clinical manifestations of congenital rubella syndrome are called the rubella triad,
I Gede Wahyu Adi Raditya, I Made Wiranadha   +1 more
doaj   +1 more source

CONGENITAL RUBELLA SYNDROME – CASE REPORT

Мать и дитя в Кузбассе, 2017
Case report had devoted to clinical observation and diagnistical process of congenital rubella syndrome (CRD) on newborn gerl. The presentation of congenital rubella syndrome consist the brain defect,nervus opticis atrophy,hearing impartment, vision ...
Мария Константиновна Соболева, Татьяна Владимировна Зорькина, Александра Владимировна Богатырева, Ирина Владимировна Гребенкина, Владимир Владимирович Протопопов   +4 more
doaj  

Trends and Patterns of Adverse Drug Reaction Reporting in Sierra Leone: A Retrospective Analysis of VigiFlow Data (2008–2022)

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 3, March 2026.
ABSTRACT Purpose Adverse drug reactions (ADRs) present significant obstacles for healthcare systems, impacting both patient safety and the effectiveness of treatments. Despite this, there is a scarcity of research on ADR reports in Sierra Leone, especially over long periods.
Isatu Jalloh, Onome Thomas Abiri, Peter Bai James, Rajesh Vagiri, Neelaveni Padayachee   +4 more
wiley   +1 more source

Prevalence of rubella-specific IgG antibodies in unimmunized young female population

Journal of Family Medicine and Primary Care, 2016
Context: Rubella is a mild self-limiting disease all over the world; nevertheless, it is of significant public health importance due to its teratogenic effect of congenital rubella syndrome.
Jayakrishnan Thayyil, Vidya Kuniyil, Anitha P Moorkoth, Bhaskar Rao, Paramasivam Selvam   +4 more
doaj   +1 more source

Rubella in Europe [PDF]

, 2017
Postnatal rubella is a mild illness, a disease which was considered to be of only minor importance for many years. The first authors to write about the disease as distinct from other exanthemata were German physicians; they differentiated rubella from ...
Galazka, A.
core  

Non-immune fetal hydrops: etiology and outcome according to gestational age at diagnosis. [PDF]

, 2020
OBJECTIVE: Fetal hydrops is associated with increased perinatal morbidity and mortality. The etiology and outcome of fetal hydrops may differ according to the gestational age at diagnosis.
A. Bhide, A. Khalil, A. Kulkarni, B. Thilaganathan, E. Dempsey, F. G. Sileo, Hutchison AA, I. Branescu, Jauniaux E, Norton ME, S. Mansour, Santolaya J, T. Homfray   +12 more
core   +2 more sources

Genetic correlations and clinical value of increased renal echogenicity in fetuses identified by prenatal ultrasonography

Precision Medical Sciences, Volume 15, Issue 1, Page 35-41, March 2026.
The corresponding images are as follows: enhanced fetal renal echo, enhanced fetal renal echo complicated with hydronephrosis, cardiac abnormality, chromosome microarray analysis: microdeletion of chromosome 17, whole‐exome sequencing: microdeletion of chromosome 17.
Haihong Liu, Yun Wu, Li Cao, Ting Zhou, LiJun Wu   +4 more
wiley   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 441-452, March 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 This original article is commented on by Scelsa on pages 311–312 of this issue. Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Hammersmith Infant Neurological Examination at 3 Months in Infants at Risk for Congenital Infections: A Cohort Study

Journal of Paediatrics and Child Health, Volume 62, Issue 3, Page 374-380, March 2026.
ABSTRACT Introduction STORCH refers to a group of congenital infections (syphilis, toxoplasmosis, rubella, cytomegalovirus and herpes) that can impact the central nervous system. As clinical signs may not appear until several months or years after birth, the early detection of risk in STORCH‐exposed infants has been challenging, and the use of ...
Karen Cristine Oliveira de Azambuja, Amanda de Arguelho Oliveira Arguelho, Meyene Duque Weber, Lorrainy Marques da Silva Dutra, Tathiana Ghisi de Souza, Daniele Soares‐Marangoni   +5 more
wiley   +1 more source