Christina T. Lam

Pediatrics | Medical Genetics

4800 Sand Point Way Ne
M/s Mb.8.632
Seattle, WA 98105

Last Updated: 09/26/2026

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Found 55 publications

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

Journal: HGG advances

Published: June 02, 2026

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

Journal: Science advances

Published: April 15, 2026

Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG.

Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG.

Journal: Molecular genetics and metabolism

Published: February 03, 2026

Heritability of Long-Term Complications in Classic Galactosemia.

Heritability of Long-Term Complications in Classic Galactosemia.

Journal: Journal of inherited metabolic disease

Published: December 19, 2025

Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency.

Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency.

Journal: Journal of inherited metabolic disease

Published: November 17, 2025

Expanded characterization of glycosylation abnormalities and galactose therapy in a patient with CCDC115-CDG using semi-quantitative N-glycan analysis of total and fractionated plasma glycoproteins, in response to Geerts et al. [1].

Expanded characterization of glycosylation abnormalities and galactose therapy in a patient with CCDC115-CDG using semi-quantitative N-glycan analysis of total and fractionated plasma glycoproteins, in response to Geerts et al. [1].

Journal: Molecular genetics and metabolism

Published: November 14, 2025

Corrigendum to "Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]".

Corrigendum to "Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future [Molecular Genetics and Metabolism 146 (2025) 109188]".

Journal: Molecular genetics and metabolism

Published: October 15, 2025

PMM2-CDG and the Role of Liver Transplantation as a Long-Term Solution: A Case Report.

PMM2-CDG and the Role of Liver Transplantation as a Long-Term Solution: A Case Report.

Journal: Pediatric transplantation

Published: May 26, 2025

Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.

Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.

Journal: Molecular genetics and metabolism

Published: May 01, 2025

Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease.

Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease.

Journal: HGG advances

Published: December 06, 2024

Causes of mortality in the congenital disorders of glycosylation.

Causes of mortality in the congenital disorders of glycosylation.

Journal: Molecular genetics and metabolism

Published: December 05, 2024

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.

Journal: Molecular genetics and metabolism

Published: November 06, 2024

Showing 1-12 of 55

Last Updated: 09/26/2026