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| 36651831 | Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association. | J Inherit Metab Dis | 2023 |
| 37747296 | A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders. | | 2023 |
| 35338746 | Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature. | American Journal of Medical Genetics, Part A | 2022 |
| 36213313 | Mass spectrometric analysis of chondroitin sulfate-linked peptides. | | 2022 |
| 35790351 | Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. | J Med Genet | 2022 |
| 35716054 | ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines. | J Inherit Metab Dis | 2022 |
| 34652821 | Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications. | Annals of Neurology | 2021 |
| 33964207 | A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. | Am J Hum Genet | 2021 |
| 33632285 | Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study. | Orphanet J Rare Dis | 2021 |
| 33583022 | Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. | J Inherit Metab Dis | 2021 |
| 33734437 | ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. | J Inherit Metab Dis | 2021 |
| 33673403 | NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation. | Life (Basel) | 2021 |
| 34043239 | A new D-galactose treatment monitoring index for PGM1-CDG. | Journal of Inherited Metabolic Disease | 2021 |
| 34258142 | The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses. | JIMD Rep | 2021 |
| 33977023 | Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings. | JIMD Reports | 2021 |
| 33044030 | Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature. | American Journal of Medical Genetics, Part A | 2021 |
| 32681750 | International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. | J Inherit Metab Dis | 2021 |
| 33413482 | Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up. | Orphanet J Rare Dis | 2021 |
| 34567092 | ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele. | Front Genet | 2021 |
| 34659374 | Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele. | Frontiers in Genetics | 2021 |
| 34711829 | Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5. | Nature Communications | 2021 |
| 33073008 | Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. | International Journal of Neonatal Screening | 2020 |
| 32145091 | Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease. | Hepatology | 2020 |
| 32407885 | Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype. | European Journal of Medical Genetics | 2020 |
| 31775018 | Defining a new immune deficiency syndrome: MAN2B2-CDG. | J Allergy Clin Immunol | 2020 |
| 32293671 | Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. | Brain | 2020 |
| 32049367 | Expanding the molecular and clinical phenotypes of FUT8-CDG. | Journal of Inherited Metabolic Disease | 2020 |
| 32157688 | B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature. | Clinical Genetics | 2020 |
| 32089546 | The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease. | Genet Med | 2020 |
| 31753749 | Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria. | Molecular Genetics and Metabolism | 2020 |
| 32546364 | Laboratory monitoring of patients with hereditary tyrosinemia type I. | Molecular Genetics and Metabolism | 2020 |
| 32802993 | A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders. | International Journal of Neonatal Screening | 2020 |
| 33073028 | The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism. | International Journal of Neonatal Screening | 2020 |
| 30997052 | Developmental delay, coarse facial features, and epilepsy in a patient with <i>EXT2</i> gene variants. | Clin Case Rep | 2019 |
| 31077402 | A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality. | Journal of Inherited Metabolic Disease | 2019 |
| 30740725 | International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. | J Inherit Metab Dis | 2019 |
| 29453517 | Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing. | JIMD Reports | 2018 |
| 30352867 | Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy. | Clinical Chemistry | 2018 |
| 29878199 | Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. | Hum Mol Genet | 2018 |
| 30290151 | A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. | Am J Hum Genet | 2018 |
| 29947113 | Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients. | Electrophoresis | 2018 |
| 29095812 | Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease. | Genetics in Medicine | 2018 |
| 29304374 | Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. | Am J Hum Genet | 2018 |
| 29550355 | Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. | Mol Genet Metab | 2018 |
| 29120458 | Precision newborn screening for lysosomal disorders. | Genetics in Medicine | 2018 |
| 29178637 | Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria. | Molecular genetics & genomic medicine | 2017 |
| 28826609 | A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening. | Journal of Molecular Diagnostics | 2017 |
| 28856833 | Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. | Am J Med Genet A | 2017 |
| 28617415 | Oral D-galactose supplementation in PGM1-CDG. | Genet Med | 2017 |
| 28703315 | Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology. | Hum Mutat | 2017 |