Article

Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases

2024-08-17

Abstract excerpt

<title>Abstract</title> <p><italic>De novo</italic> synthesis of purines (DNPS) is a biochemical pathway that provides the purine bases for synthesis of essential biomolecules such as nucleic acids, energy transfer molecules, signaling molecules and various cofactors. Inborn errors of DNPS enzymes present with a wide spectrum of neurodevelopmental and neuromuscular abnormalities and accumulation of characteristic...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 918a2540-e7ad-527e-ac41-378e45c8c471
DOI: 10.21203/rs.3.rs-4730090/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling casesDOI 10.21203/rs.3.rs-4730090/v1Read

Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling casesSemantic proximity Read

Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity.Semantic proximity Read

Rare hereditary nonspherocytic hemolytic anemia caused by novel homozygous mutation, c.301C>A, (Q101K) in the AK1 gene in an Indian familySemantic proximity Read

Fatal systemic disorder caused by biallelic variants in FARSASemantic proximity Read

Adenylosuccinate lyase deficiency.Semantic proximity Read

Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family.Semantic proximity Read

Expanding the spectrum of clinical severity of AICA-ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene.Semantic proximity Read

PURA-Related Neurodevelopmental Disorder: Insight from Eight New Cases.Semantic proximity Read

A pair of compound heterozygous IARS2 variants manifesting West syndrome and electrolyte disorders in a Chinese patientSemantic proximity Read

Topical Review : Neurologic Aspects of Adenylosuccinate Lyase DeficiencySemantic proximity Read

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.Semantic proximity Read

Clinical and Genetic Characterization of Two Colombian Patients with PURA-Related Neurodevelopmental Disorder: Expanding the Latin American Phenotypic SpectrumSemantic proximity Read