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ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
- Published in:
- Nature Communications, 2016, v. 7, n. 5, p. 11600, doi. 10.1038/ncomms11600
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- Publication type:
- Article
Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
- Published in:
- 2021
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- Publication type:
- Correction Notice
ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.744884
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- Publication type:
- Article
B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.
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- Clinical Genetics, 2020, v. 97, n. 6, p. 920, doi. 10.1111/cge.13735
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- Publication type:
- Article
Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants.
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- Clinical Case Reports, 2019, v. 7, n. 4, p. 632, doi. 10.1002/ccr3.2010
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- Publication type:
- Article
Use of Endoglycosidase H as a diagnostic tool for MAN1B1‐CDG patients.
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- Electrophoresis, 2018, v. 39, n. 24, p. 3133, doi. 10.1002/elps.201800020
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- Publication type:
- Article
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26534-y
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- Publication type:
- Article
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1159, doi. 10.1002/jimd.12682
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- Publication type:
- Article
Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 300, doi. 10.1002/jimd.12589
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- Publication type:
- Article
ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 969, doi. 10.1002/jimd.12527
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- Publication type:
- Article
A new D‐galactose treatment monitoring index for PGM1‐CDG.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1263, doi. 10.1002/jimd.12406
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- Publication type:
- Article
Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 987, doi. 10.1002/jimd.12367
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- Publication type:
- Article
Expanding the molecular and clinical phenotypes of FUT8‐CDG.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 871, doi. 10.1002/jimd.12221
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- Publication type:
- Article
A novel phosphoglucomutase‐deficient mouse model reveals aberrant glycosylation and early embryonic lethality.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 998, doi. 10.1002/jimd.12110
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- Publication type:
- Article
Measurement of psychosine in dried blood spots - a possible improvement to newborn screening programs for Krabbe disease.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 923, doi. 10.1007/s10545-015-9822-z
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- Publication type:
- Article
Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.
- Published in:
- Clinical Chemistry, 2018, v. 64, n. 12, p. 1753, doi. 10.1373/clinchem.2018.293712
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- Publication type:
- Article
Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.
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- Clinical Chemistry, 2016, v. 62, n. 9, p. 1248, doi. 10.1373/clinchem.2016.256255
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- Publication type:
- Article
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine- Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
- Published in:
- Clinical Chemistry, 2016, v. 62, n. 1, p. 208, doi. 10.1373/clinchem.2015.243279
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- Publication type:
- Article
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 67, doi. 10.1002/jmd2.12217
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- Publication type:
- Article
Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 3, doi. 10.1002/jmd2.12197
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- Publication type:
- Article
High-Throughput Immunoassay for the Biochemical Diagnosis of Friedreich Ataxia in Dried Blood Spots and Whole Blood.
- Published in:
- Clinical Chemistry, 2013, v. 59, n. 10, p. 1461, doi. 10.1373/clinchem.2013.207472
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- Publication type:
- Article
From Art to Science: Oligosaccharide Analysis by MALDI-TOF Mass Spectrometry Finally Replaces 1-Dimensional Thin-Layer Chromatography.
- Published in:
- Clinical Chemistry, 2013, v. 59, n. 9, p. 1297, doi. 10.1373/clinchem.2013.208793
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- Publication type:
- Article
Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry.
- Published in:
- Clinical Chemistry, 2010, v. 56, n. 11, p. 1686, doi. 10.1373/clinchem.2010.148957
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- Publication type:
- Article
Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1491, doi. 10.1002/humu.23291
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- Publication type:
- Article
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
- Published in:
- Human Mutation, 2016, v. 37, n. 7, p. 653, doi. 10.1002/humu.22983
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- Publication type:
- Article
Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1048, doi. 10.1002/humu.22856
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- Publication type:
- Article
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
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- Life (2075-1729), 2021, v. 11, n. 3, p. 187, doi. 10.3390/life11030187
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- Publication type:
- Article
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 17, p. 3029, doi. 10.1093/hmg/ddy213
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- Publication type:
- Article
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.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2005, doi. 10.1002/ajmg.a.62737
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- Publication type:
- Article
Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 213, doi. 10.1002/ajmg.a.61914
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- Publication type:
- Article
Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2906, doi. 10.1002/ajmg.a.38412
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- Article
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.
- Published in:
- 2021
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- Publication type:
- letter
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.
- Published in:
- 2021
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- Publication type:
- journal article
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 795, doi. 10.1002/mgg3.333
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- Publication type:
- Article
Discordant results between biochemical and molecular transthyretin assays: lessons learned from a unique testing algorithm at the Mayo Clinic.
- Published in:
- Journal of Genetics, 2013, v. 92, n. 3, p. 599, doi. 10.1007/s12041-013-0303-6
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- Publication type:
- Article