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Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder.

• Authors : Belengeanu, Valerica¹ (AUTHOR) ; Marian, Diana² (AUTHOR) ; Stana, Horia Ademir¹ (AUTHOR)

• Source: Diagnostics (2075-4418). Jan2025, Vol. 15 Issue 2, p202. 6p.

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Novel insight into FCSK‐congenital disorder of glycosylation through a CRISPR‐generated cell model.

• Authors : Fazelzadeh Haghighi, Maryam¹ (AUTHOR); Jafari Khamirani, Hossein² (AUTHOR); Fallahi, Jafar³ (AUTHOR)

• Source: Molecular Genetics & Genomic Medicine. May2024, Vol. 12 Issue 5, p1-14. 14p.

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Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation

• Authors : Dan Zhong; Xiujuan Huang; Taoshan Feng

Subjects: Congenital disorder of glycosylation type Ia; Phosphomannomutase 2; Cerebellar dysplasia

• Source: Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101067- (2024)

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Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition

• Authors : Kimberly M. Ezell; Yutaka Furuta; Devin Oglesbee

Subjects: Undiagnosed diseases network (UDN); STT3A; Congenital disorders of glycosylation (CDGs)

• Source: Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101145- (2024)

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PIGN c.776T>C (p.Phe259Ser) variant present in trans with a pathogenic variant for PIGN-congenital disorder of glycosylation: Bella-Noah syndrome

• Authors : Lyvia Neves Rebello Alves; Lívia Valle dos Santos Silveira; Raquel Silva dos Reis Trabach

Subjects: Glycosylation; Congenital disorder of glycosylation; PIGN-CDG

• Source: Heliyon, Vol 10, Iss 6, Pp e27438- (2024)

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Cardiac involvement of Gorlin-Goltz syndrome: new light among the shadows of an old congenital disorder

• Authors : Mihail Celeski; Andrea Segreti; Annunziata Nusca

Subjects: Gorlin-Goltz syndrome; basal cell naevus syndrome; myocarditis

• Source: Monaldi Archives for Chest Disease (2025)

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Pediatric Anesthetic Management of a Patient With an ALG‐13 Gene Mutation, a Rare Congenital Disorder of Glycosylation

• Authors : Esha Thakkar; John A. Iasiello; Sunny R. Cai

Subjects: ALG‐13 mutation; congenital disorders of glycosylation; malignant hyperthermia

• Source: Clinical Case Reports, Vol 13, Iss 1, Pp n/a-n/a (2025)

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Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia

• Authors : Cheng Luo; Danxia Peng; Yanyan Li

Subjects: Congenital disorders of glycosylation; MPI gene; Hypoglycemia

• Source: Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101162- (2024)

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Drosophila models of phosphatidylinositol glycan biosynthesis class A congenital disorder of glycosylation (PIGA-CDG) mirror patient phenotypes.

• Authors : Thorpe, Holly J¹ (AUTHOR); Owings, Katie G¹ (AUTHOR); Aziz, Miriam C¹ (AUTHOR)

• Source: G3: Genes | Genomes | Genetics. Mar2024, Vol. 14 Issue 3, p1-9. 9p.

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Dental management of Fanconi anemia: a rare congenital disorder.

• Authors : Dias, Jacqueline Jacinta¹ ; Gupta, Ankit²; Shreehari, A. K.²

• Source: Journal of Rare Diseases. 7/10/2024, Vol. 3 Issue 1, p1-5. 5p.

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