Results 201 to 210 of about 879,135 (289)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Ceftriaxone-Resistant <i>Escherichia coli</i> Sepsis in an Infant With Spinal Muscular Atrophy Type 1 Receiving Risdiplam: A Case Report. [PDF]

Clin Case Rep
Zetawi M, Shoman R, Afana A, Aldarak S, Draidi R, AbuBaha B, Jaradat R, Khouli F, Salameh H.   +8 more
europepmc   +1 more source

Hematological Indices Abnormalities Among Sudanese Children With Down Syndrome

Health Science Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background and Aims Down syndrome (DS) is a genetic condition caused by the triplication of chromosome 21. Currently, there is no available published data on hematological parameters among Sudanese children with Down syndrome. Therefore, this study aimed to investigate these parameters among this population.
Manasik Elghali, Abdelhakam G. Tamomh, Rooa Alhaj Ahmed, Tibyan Hassan Abdalmalik, Howida Hajhamd Ibrahim, Ibrahim K. Ibrahim   +5 more
wiley   +1 more source

Congenital myasthenic syndrome due to novel <i>GFPT1</i> variant presenting with head drop and visual impairment: A case report. [PDF]

J Neuromuscul Dis
Torrey K, Logan R, Tiongson E, Dennison JV, Fischer A, Jain N, Schniederjan M, Maselli RA, Verma S.   +8 more
europepmc   +1 more source

Severe congenital cutis laxa with generalized muscle hypotonia due to ATP6V1A mutations

, 2020
Vogt, G, El Choubassi, N, Holtgrewe, M, Krause, S, Lekaj, A, Horvath, R, Schuelke, M, Gardeitchik, T, Mundlos, S, Herczegfalvi, A, Lochmueller, H, Karcagi, V, Kornak, U, Fischer-Zirnsak, B   +13 more
openaire   +2 more sources

A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
A heterozygous de novo GABBR2 variant was identified in a girl with clinical classical Rett syndrome. Comparison with previously reported cases suggests that GABBR2 variants should be considered in the genetic evaluation of individuals with MECP2‐negative Rett syndrome.
Jenny Klintenstedt, Peter Baeck, Ingegerd Witt Engerström, Cecilia Gunnarsson   +3 more
wiley   +1 more source

The first report of primary hypotonia with abnormal electromyogram and CBS mutation in a Chinese child. [PDF]

BMC Med Genomics
Zhang Z, Xu S, Wu T, Xu W, Wu B, Yang C.
europepmc   +1 more source

Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports

Pediatric Anesthesia, Volume 36, Issue 10, Page 1217-1230, October 2026.
ABSTRACT Background Genetic mitochondrial diseases (GMDs) are a large group of genetically and clinically heterogeneous disorders caused by defects in genes encoding mitochondrial components. GMDs are grouped into named syndromes based on clinical presentation, for example, Leigh syndrome (LS).
Brittany M. Johnson, Simon C. Johnson
wiley   +1 more source

Clinical and modifier gene profiles in reversible infantile respiratory chain deficiency: three Chinese cases report and literature review. [PDF]

Transl Pediatr
Li T, Xu C, Liu Z, Liu Y, Zou Y, He Z, Zhang Y, Sun M, Xue H, Li H, Fang F.   +10 more
europepmc   +1 more source

A Multidisciplinary Approach to the Anesthetic Management of Patients With Duchenne Muscular Dystrophy

Pediatric Pulmonology, Volume 61, Issue 10, October 2026.
ABSTRACT Duchenne muscular dystrophy (DMD) is an inherited neuromuscular disorder with multisystem involvement that causes progressive muscular weakness and cardiorespiratory dysfunction. The first comprehensive recommendations regarding anesthetic management are now almost 20 years old and, in the interval, DMD care has evolved.
Fabrizio Racca, Elena Conti, Giulia Racca, Luigi Barberis, David J. Birnkrant   +4 more
wiley   +1 more source