Results 201 to 210 of about 78,400 (304)

Tri‐Parametric Assessment of α‐Galactosidase A Activity, lysoGb3 and X‐Inactivation Aids Genotype‐Phenotype Categorization of Fabry Disease Female Patients

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Fabry disease (FD, OMIM 301500) is an X‐linked lysosomal storage disorder caused by deficient activity of lysosomal alpha‐galactosidase A (AGAL, E.C. 3.2.1.22) due to pathogenic variants in the GLA gene (HGNC:4296, Xq22.1). Plasmatic deacylated globotriaosylceramide (lysoGb3) is elevated in FD patients as a reflection of lysosomal accumulation
Ladislav Kuchar, Lenka Dvorakova, Linda Berna, Martin Reboun, Petra Slavikova, Radovan Bakalar, Jana Ledvinova, Helena Poupetova, Petr Ruzicka, Asfaw Befekadu, Gabriela Dostalova, Stella Reichmannova, Ales Linhart, Jakub Sikora   +13 more
wiley   +1 more source

Genetic screening for hearing loss of 38,589 neonates with follow-up in South China. [PDF]

Hum Genomics
Gu X, Huang R, Xie J, Shi C, Zhang Y, Liang Z, Wang L, Xiao D, Yuan G, Li C, Chen J, Hao H.   +11 more
europepmc   +1 more source

Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Almost all patients with mucopolysaccharidosis (MPS) develop respiratory dysfunction of varying severity during disease progression. While respiratory disease in MPS has traditionally been attributed to upper airway obstruction caused by glycosaminoglycan (GAG) accumulation in the trachea and bronchi, involvement of the intrapulmonary ...
Martin Donnelley, Ronan Smith, Patricia Cmielewski, Nicole Reyne, Piraveen Pirakalathanan, Nina Eikelis, Kris Nilsen, Jennie Louise, Kate Barratt, Jessica Logan, Ben Ung, David Parsons, Doug Brooks, Sandra Orgeig, Emma Parkinson‐Lawrence   +14 more
wiley   +1 more source

A Logratio Approach to the Analysis of Autosomal Genotype Frequencies Across Multiple Samples. [PDF]

Mol Ecol Resour
Graffelman J.
europepmc   +1 more source

Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Tetrahydrobiopterin (BH4; sapropterin) responsiveness in phenylalanine hydroxylase (PAH) deficiency is genotype dependent, yet many patients remain untested. Allelic phenotype values (APV) summarize allele severity, but responsiveness can be heterogeneous within APV strata. We assessed whether integrating functional consequence annotation from
Nastassja Himmelreich, Nenad Blau
wiley   +1 more source

A century of theories of balancing selection. [PDF]

Biol Rev Camb Philos Soc
Ruzicka F, Zwoinska MK, Goedert D, Kokko H, Li Richter XY, Moodie IR, Nilén S, Olito C, Svensson EI, Czuppon P, Connallon T.   +10 more
europepmc   +1 more source

ABCA4‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study reports the documented case of ABCA4‐associated early‐onset severe retinal dystrophy in China, broadens the mutational spectrum of ABCA4 in this population, and highlights distinct genotype–phenotype correlations that may inform clinical management and genetic counseling.
Nian Li, Linlin Su, Yue Ren, Ye Liu, Jiayuan Ge, Henan Sun, Zhuoshi Wang   +6 more
wiley   +1 more source

Variants in the DNAH11 gene responsible for primary ciliary dyskinesia or probably atypical primary ciliary dyskinesia presenting left-right asymmetry disorder. [PDF]

PLoS One
Zhao K, Yuan L, Xiong Y, Xia H, Deng S, Chen M, Liao Y, Wang J, Deng H.   +8 more
europepmc   +1 more source

Society for Maternal‐Fetal Medicine Statement: Evaluation and management of cell‐free DNA screening for fetal red cell antigen genotype in alloimmunized and non‐alloimmunized pregnancies

Pregnancy, Volume 2, Issue 4, July 2026.
Abstract A substantial portion of RhD‐negative pregnant patients carry an RhD‐negative fetus and are not at risk of RhD alloimmunization. Knowing the fetal RhD genotype allows such patients to avoid unnecessary monitoring or treatment. The use of cell‐free DNA (cfDNA) to detect the fetal RhD genotype from maternal blood has been proposed to identify ...
Society for Maternal‐Fetal Medicine (SMFM), Britton D. Rink, Jeffrey A. Kuller, Teresa N. Sparks, Malavika Prabhu, Anne H. Mardy, Lorraine Dugoff, Joseph R. Biggio, SMFM Publications Committee   +8 more
wiley   +1 more source

Molecular detection of the kdr T917I mutation in head lice (psocodea: pediculidae) from Malaysia and its increasing frequency over a decade. [PDF]

J Insect Sci
Mokhtar AS, Zahanuddin A, Lau YL, Sahimin N.   +3 more
europepmc   +1 more source