Results 171 to 180 of about 49,640 (282)

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Novel NDUFV1 variant in progressive cavitating leukodystrophy with microcephaly: a case report. [PDF]

BMC Pediatr
Xiaowei L, Hong W, Hong L, Bo W, Xiaoli Y.   +4 more
europepmc   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases. [PDF]

Mol Genet Genomic Med
Li YF, Zhang SH, Zhen L, Zhang LZ.
europepmc   +1 more source

Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist, Sumit Parikh, Thomas van Overeem Hansen, Flemming Wibrand, Elsebet Østergaard   +4 more
wiley   +1 more source

Primate abnormal spindle-like microcephaly-associated knockout causes severe microcephaly and oligodendrocyte loss in the brain. [PDF]

Protein Cell
He D, Pan M, Sun F, Jiang L, Guo Q, Wu P, Li S, Yang W, Tu Z, Li XJ, Guo X.   +10 more
europepmc   +1 more source

A missense variant in Exon 9 of the <i>ASNS</i> gene causes splicing abnormality in an Infant with asparagine synthetase deficiency. [PDF]

Front Genet
Zhang W, Chen F, Wang Z, Ding H, Zhang Y, Zeng L.   +5 more
europepmc   +1 more source

Microcephaly [PDF]

, 2020
openaire   +1 more source

Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population

Clinical Genetics, Volume 110, Issue 1, Page 90-95, July 2026.
Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong, Seungbok Lee, Soo Yeon Kim, Taekeun Kim, Woong‐Hee Shin, Sesong Jang, Ji‐Hwan Park, Dongmin Jang, Gunwoo Park, Jong Ho Cha, Jae So Cho, Anna Cho, Hunmin Kim, Hyewon Woo, Jon Soo Kim, Byung Chan Lim, Ji Eun Lee, Myungshin Kim, Chong Kun Cheon, Jungmin Choi, Jong‐Hee Chae   +20 more
wiley   +1 more source

Malnutrition in Children with Congenital Zika Virus Syndrome: A Systematic Review. [PDF]

Matern Child Health J
da Silva DS, Dos Santos LKC, Barbosa SS, Costa ÁDS, Arrais NMR, Ribeiro KDDS, Lopes MMGD, Lopes MMGD.   +7 more
europepmc   +1 more source