|
| 38070824 | Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature. | Eur J Med Genet | 2024 |
| 37488532 | Rare case of exostosin 1/exostosin 2-related membranous lupus nephritis concomitant with dual ANCA- and anti-GBM antibody-associated crescentic glomerulonephritis effectively diagnosed by mass spectrometry: a case report. | BMC Nephrol | 2023 |
| 34673139 | C-Mannosylated tryptophan-containing WSPW peptide binds to actinin-4 and alters E-cadherin subcellular localization in lung epithelial-like A549Â cells. | Biochimie | 2022 |
| 35523689 | Tumor metabolic alterations after neoadjuvant chemoradiotherapy predict postoperative recurrence in patients with pancreatic cancer. | Jpn J Clin Oncol | 2022 |
| 36713804 | Mass Spectrometry of Transferrin and Apolipoprotein CIII from Dried Blood Spots for Congenital Disorders of Glycosylation. | Mass Spectrom (Tokyo) | 2022 |
| 36060529 | Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole Mass Analyzers for Congenital Disorders of Glycosylation. | Mass Spectrom (Tokyo) | 2022 |
| 36060528 | Electrospray Ionization Mass Spectrometry of Apolipoprotein CIII to Evaluate <i>O</i>-glycan Site Occupancy and Sialylation in Congenital Disorders of Glycosylation. | Mass Spectrom (Tokyo) | 2022 |
| 36224347 | Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). | Sci Rep | 2022 |
| 35205402 | Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: <i>SRD5A3</i>-Congenital Disorders of Glycosylation and <i>RP1</i>-Related Retinitis Pigmentosa. | Genes (Basel) | 2022 |
| 32332102 | TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms. | J Med Genet | 2021 |
| 33583911 | Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation. | Endocr J | 2021 |
| 34092405 | Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation. | Brain Dev | 2021 |
| 34258140 | Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG). | JIMD Rep | 2021 |
| 33261925 | Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction. | Brain Dev | 2021 |
| 32677746 | Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation. | J Mass Spectrom | 2021 |
| 32485575 | NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor. | Epilepsy Res | 2020 |
| 33312876 | L-Fucose treatment of FUT8-CDG. | Mol Genet Metab Rep | 2020 |
| 32884905 | SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation. | Mol Genet Metab Rep | 2020 |
| 32416197 | Role of C-mannosylation in the secretion of mindin. | Biochim Biophys Acta Gen Subj | 2020 |
| 32547898 | Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry to Detect Diagnostic Glycopeptide Markers of Congenital Disorders of Glycosylation. | Mass Spectrom (Tokyo) | 2020 |
| 29752652 | Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion. | JIMD Rep | 2019 |
| 31345083 | Safety of Amlodipine in Early Pregnancy. | J Am Heart Assoc | 2019 |
| 31231989 | A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. | Mol Genet Genomic Med | 2019 |
| 31084922 | Evaluation of IgA1 O-glycosylation in Henoch-Schönlein Purpura Nephritis Using Mass Spectrometry. | Transplant Proc | 2019 |
| 30553446 | Difference in IgA1 O-glycosylation between IgA deposition donors and IgA nephropathy recipients. | Biochem Biophys Res Commun | 2019 |
| 28880700 | Anti-Ro52 antibody level is an important marker of fetal congenital heart block risk in anti-Ro/SSA antibody positive pregnancy. | Mod Rheumatol | 2018 |
| 29618761 | QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation. | J Hum Genet | 2018 |
| 29342843 | Chiral and Molecular Recognition through Protonation between Aromatic Amino Acids and Tripeptides Probed by Collision-Activated Dissociation in the Gas Phase. | Molecules | 2018 |
| 27271107 | Enantioselective Collision-Activated Dissociation of Gas-Phase Tryptophan Induced by Chiral Recognition of Protonated L-Alanine Peptides. | Orig Life Evol Biosph | 2017 |
| 28124800 | Trans fatty acid accumulation in the human placenta. | J Mass Spectrom | 2017 |
| 29127204 | Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects. | J Exp Med | 2017 |
| 28794993 | Limitations of galactose therapy in phosphoglucomutase 1 deficiency. | Mol Genet Metab Rep | 2017 |
| 25956699 | Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers. | Pediatr Nephrol | 2016 |
| 26333807 | It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test. | Alcohol Alcohol | 2016 |
| 26511985 | Comparison of analytical methods for profiling N- and O-linked glycans from cultured cell lines : HUPO Human Disease Glycomics/Proteome Initiative multi-institutional study. | Glycoconj J | 2016 |
| 26673038 | N-Cα Bond Cleavage of Zinc-Polyhistidine Complexes in Electron Transfer Dissociation Mediated by Zwitterion Formation: Experimental Evidence and Theoretical Analysis of the Utah-Washington Model. | J Phys Chem B | 2016 |
| 27733679 | The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan. | J Biol Chem | 2016 |
| 26833332 | CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. | Am J Hum Genet | 2016 |
| 27095603 | Mass spectrometry of transferrin glycoforms to detect congenital disorders of glycosylation: Site-specific profiles and pitfalls. | Proteomics | 2016 |
| 26873821 | Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation. | Glycoconj J | 2016 |
| 26923585 | Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy. | Cell Rep | 2016 |
| 26238249 | TMEM165 Deficiency: Postnatal Changes in Glycosylation. | JIMD Rep | 2016 |
| 25947087 | Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions. | Pediatr Nephrol | 2016 |
| 24608429 | Surfactant protein D suppresses lung cancer progression by downregulation of epidermal growth factor signaling. | Oncogene | 2015 |
| 26250851 | Surfactant protein D suppresses lung cancer progression by downregulation of epidermal growth factor signaling. | Oncogene | 2015 |
| 26456780 | Hypervalent radical formation probed by electron transfer dissociation of zwitterionic tryptophan and tryptophan-containing dipeptides complexed with Ca2+ and 18-crown-6 in the gas phase. | J Mass Spectrom | 2015 |
| 26637979 | SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. | Am J Hum Genet | 2015 |
| 26092603 | Evaluation of serum carbohydrate-deficient transferrin by HPLC and MALDI-TOF MS. | Clin Chim Acta | 2015 |
| 25778940 | A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. | J Inherit Metab Dis | 2015 |
| 25305627 | Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation. | Clin Biochem | 2015 |