Results 231 to 240 of about 31,520 (324)

Unveiling Immune System Perturbations in Early Development Through Zebrafish Models of NADHX Repair Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The vital cofactors NADH and NADPH are prone to hydration, forming hydroxylated redox‐inactive derivatives (NADHX and NADPHX) in cells. These damaged metabolites are repaired by two highly conserved enzymes, an NAD(P)HX dehydratase (NAXD) and an NAD(P)HX epimerase (NAXE).
Myrto Patraskaki, Najmesadat Seyedkatouli, Lisa Schlicker, Marc O. Warmoes, Maria Lorena Cordero‐Maldonado, Ursula Heins‐Marroquin, Carole L. Linster   +6 more
wiley   +1 more source

Marinesco-Sjögren Syndrome: A Novel <i>SIL1</i> Variant with In Silico Analysis and Review of the Literature. [PDF]

Life (Basel)
Aslan ES, Eslamkhah S, Akcali N, Yavas C, Karcioglu Batur L, Sengenc E, Yüksel A.   +6 more
europepmc   +1 more source

Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L‐Amino Acid Decarboxylase Deficiency Using an MR‐Compatible Cannula: 48 Weeks of Follow‐Up

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Aromatic ʟ‐amino acid decarboxylase (AADC) deficiency is a rare pediatric neurotransmitter disorder that typically necessitates lifelong care, and that carries a risk of childhood mortality. Eladocagene exuparvovec gene therapy is designed to restore AADC production.
Daniel J. Curry, Phillip L. Pearl, Scellig S. D. Stone, Donald L. Gilbert, Sudhakar Vadivelu, Bruria Ben‐Zeev, Matthew Vestal, Muhammad Zafar, Chun‐Hwei Tai, Sheng‐Che Chou, Zion Zibly, Lior Ungar, Mered Parnes, Mariam Hull, Lisa Emrick, Christian Werner, Alexis Krolick, Vinay Penematsa, Antonia Wang, Rezwanur Rahman, Lee Golden, Yin‐Hsiu Chien, Paul Wuh‐Liang Hwu   +22 more
wiley   +1 more source

Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Gargani S, Manthou ME, Dermitzakis I, Theotokis P.   +6 more
europepmc   +1 more source

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: despite an early clinical onset with rapid ...
Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, Laura Asnaghi, Eleonora Bonaventura, Davide Tonduti, Luigina Spaccini, Laura Assunta Saielli, Chiara Montanari, Francesca Cairello, Savina Mannarino, Matilde Ferrario, Alessandra Del Longo, Marcello Napolitano, Andrea Righini, Michela Semeraro, Anna Venerando, Martina Miceli, Elvira Verduci, Gianvincenzo Zuccotti   +19 more
wiley   +1 more source

Early Diagnosis and Targeted Therapy in SLC39A8-Congenital Disorder of Glycosylation: A Case Report From Bulgaria. [PDF]

Cureus
Varbanova V, Tacheva G, Paneva T, Krasteva M, Stamatov D, Litvinenko I.   +5 more
europepmc   +1 more source

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 761-763, March 2026.
Hiromi Sumitomo, Tomoyuki Akiyama, Tadashi Kaname, Toshiki Takenouchi   +3 more
wiley   +1 more source

Concurrent 12p trisomy and 4q34.2-q35.2 deletion detected by WES-CNV: Case report. [PDF]

Medicine (Baltimore)
Sun X, Lin S, Wang W, Qi Y, Jiang K.
europepmc   +1 more source

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Yasmina Rahmuni, Ilham Ratbi, Jaber Lyahyai, Imane Cherkaoui Jaouad, Ourayna Batta, Aziza Sbiti, Maryem Sahli, Omar Askander, Zineb Rchiad, Abdelaziz Sefiani   +9 more
wiley   +1 more source

Pathophysiological Role of Vitamin D Deficiency in Down Syndrome: Insights into Metabolic Dysfunction and Sarcopenia. [PDF]

Int J Mol Sci
Valle MS, Russo C, Surdo S, Cambria MT, Campanella M, Tuttobene M, Malaguarnera L.   +6 more
europepmc   +1 more source