Results 71 to 80 of about 3,112 (224)
Insuficiencia hepática aguda asociada a enfermedades metabólicas hereditarias en ninos pequenos [PDF]
, 2017 INTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving.
Dias-Costa, F +6 more
core +1 more source
Organoids for Metabolic Disease Modeling
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita +2 more
wiley +1 more source
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
Cellular and Molecular Life SciencesSLC35A2-CDG is an X-linked congenital disorder of glycosylation (CDG), characterized by defective UDP-galactose transport into the Golgi and endoplasmic reticulum and consequent insufficient galactosylation of glycans.
Andrea Jáñez Pedrayes +16 more
doaj +1 more source
Frontiers in GeneticsThis report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG (OMIM 607906), presenting as a congenital myasthenic syndrome (CMS) caused by variants identified in ALG2, which encodes an α1,3 ...
Ivan Martínez Duncker +10 more
doaj +1 more source
N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant
Biomedicines, 2023 Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by a defect in the process of protein glycosylation.
Rebeka Kodríková +13 more
doaj +1 more source
Clinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib
JIMD Reports, Volume 67, Issue 2, March 2026.ABSTRACT Glycogen storage disease 1b (GSD1b) typically presents in early infancy with poor fasting tolerance, hepatomegaly, and neutropenia. We report two siblings who were diagnosed with GSD1b in adulthood. Both had a normal fasting tolerance throughout childhood and, as adults, were able to fast for at least 16 h without developing hypoglycaemia. The
Gregory Lynch +5 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.We report a novel homozygous pathogenic PGAP3 variant (c.202dupT; p.Cys68fs*2) in a child with hyperphosphatasia and severe neurodevelopmental impairment. Elevated alkaline phosphatase guided diagnosis, expanding the genotypic and phenotypic spectrum of PGAP3‐related HPMRS.
Arash Salmaninejad +10 more
wiley +1 more source
A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene
Journal of Investigative Medicine High Impact Case Reports, 2023 Cerebrotendinous xanthomatosis ( CTX ) is a rare hereditary disease described by a mutation in the CYP27A1 gene , which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid.
Hamed Ghoshouni MD +4 more
doaj +1 more source
TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy
Frontiers in Genetics, 2022 Background: TMEM199-congenital disorder of glycosylation (TMEM199-CDG) is a rare autosomal recessive inherited disease characterized by chronically elevated serum transaminase, decreased serum ceruloplasmin, steatosis and/or fibrosis, TMEM199 mutation ...
Yuan Fang +5 more
doaj +1 more source
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg [PDF]
, 2017 In the endoplasmic reticulum (ER) of eukaryotes, N-linked glycans are first assembled on the lipid carrier dolichyl pyrophosphate. The GlcNAc2Man9Glc3 oligosaccharide is transferred to selected asparagine residues of nascent polypeptides.
Aebi, Markus +5 more
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