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Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

American journal of human genetics, 2014-02, Vol.94 (2), p.161-175

2014

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Perspectives on Glycosylation and Its Congenital Disorders

Trends in genetics, 2018-06, Vol.34 (6), p.466-476

2018

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Anterior Overgrowth in Primary Curves, Compensatory Curves and Junctional Segments in Adolescent Idiopathic Scoliosis

PloS one, 2016-07, Vol.11 (7), p.e0160267-e0160267

2016

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Neurological Aspects of Human Glycosylation Disorders

Annual review of neuroscience, 2015-07, Vol.38 (1), p.105-125

2015

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GLUT1 is a highly efficient L-fucose transporter

The Journal of biological chemistry, 2023-01, Vol.299 (1), p.102738-102738, Article 102738

2023

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Therapeutic Monosaccharides: Looking Back, Moving Forward

Biochemistry (Easton), 2020-09, Vol.59 (34), p.3064-3077

2020

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Dissecting the molecular organization of the translocon-associated protein complex

Nature communications, 2017-02, Vol.8 (1), p.14516-14516, Article 14516

2017

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Neurology of inherited glycosylation disorders

Lancet neurology, 2012-05, Vol.11 (5), p.453-466

2012

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N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity

Cell reports (Cambridge), 2019-12, Vol.29 (13), p.4620-4631.e4

2019

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Chemical Therapies for Congenital Disorders of Glycosylation

ACS chemical biology, 2022-11, Vol.17 (11), p.2962-2971

2022

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Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

American journal of human genetics, 2013-04, Vol.92 (4), p.632-636

2013

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Psychophysiological outcomes of health qigong for chronic conditions: A systematic review

Psychophysiology, 2009-03, Vol.46 (2), p.257-269

2009

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Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)

Journal of inherited metabolic disease, 2015-01, Vol.38 (1), p.171-178

2015

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Clinical Effectiveness of School Screening for Adolescent Idiopathic Scoliosis: A Large Population-Based Retrospective Cohort Study

Spine (Philadelphia, Pa. 1976), 2010-08, Vol.35 (17), p.1607-1614

2010

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Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

American journal of human genetics, 2012-04, Vol.90 (4), p.685-688

2012

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Is Radiation-Free Ultrasound Accurate for Quantitative Assessment of Spinal Deformity in Idiopathic Scoliosis (IS): A Detailed Analysis With EOS Radiography on 952 Patients

Ultrasound in medicine & biology, 2019-11, Vol.45 (11), p.2866-2877

2019

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Are volumetric bone mineral density and bone micro-architecture associated with leptin and soluble leptin receptor levels in adolescent idiopathic scoliosis?--A case-control study

PloS one, 2014-02, Vol.9 (2), p.e87939-e87939

2014

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Discrepancy between radiographic shoulder balance and cosmetic shoulder balance in adolescent idiopathic scoliosis patients with double thoracic curve

European spine journal, 2009-01, Vol.18 (1), p.45-51

2009

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Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology

Molecular genetics and metabolism, 2024-05, Vol.142 (1), p.108476-108476, Article 108476

2024

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A population-based cohort study of 394,401 children followed for 10 years exhibits sustained effectiveness of scoliosis screening

The spine journal, 2015-05, Vol.15 (5), p.825-833

2015

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Lower Muscle Mass and Body Fat in Adolescent Idiopathic Scoliosis Are Associated With Abnormal Leptin Bioavailability

Spine (Philadelphia, Pa. 1976), 2016-06, Vol.41 (11), p.940-946

2016

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SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy

Clinica chimica acta, 2021-10, Vol.521, p.104-106

2021

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Halo-gravity traction combined with assisted ventilation: an effective pre-operative management for severe adult scoliosis complicated with respiratory dysfunction

European spine journal, 2016-08, Vol.25 (8), p.2416-2422

2016

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Genome-wide association study identifies new susceptibility loci for adolescent idiopathic scoliosis in Chinese girls

Nature communications, 2015-09, Vol.6 (1), p.8355-8355, Article 8355

2015

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Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

Perspectives on Glycosylation and Its Congenital Disorders

Anterior Overgrowth in Primary Curves, Compensatory Curves and Junctional Segments in Adolescent Idiopathic Scoliosis

Neurological Aspects of Human Glycosylation Disorders

GLUT1 is a highly efficient L-fucose transporter

Therapeutic Monosaccharides: Looking Back, Moving Forward

Dissecting the molecular organization of the translocon-associated protein complex

Neurology of inherited glycosylation disorders

N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity

Chemical Therapies for Congenital Disorders of Glycosylation

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

Psychophysiological outcomes of health qigong for chronic conditions: A systematic review

Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)

Clinical Effectiveness of School Screening for Adolescent Idiopathic Scoliosis: A Large Population-Based Retrospective Cohort Study

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

Is Radiation-Free Ultrasound Accurate for Quantitative Assessment of Spinal Deformity in Idiopathic Scoliosis (IS): A Detailed Analysis With EOS Radiography on 952 Patients

Are volumetric bone mineral density and bone micro-architecture associated with leptin and soluble leptin receptor levels in adolescent idiopathic scoliosis?--A case-control study

Discrepancy between radiographic shoulder balance and cosmetic shoulder balance in adolescent idiopathic scoliosis patients with double thoracic curve

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

A population-based cohort study of 394,401 children followed for 10 years exhibits sustained effectiveness of scoliosis screening

Lower Muscle Mass and Body Fat in Adolescent Idiopathic Scoliosis Are Associated With Abnormal Leptin Bioavailability

SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy

Halo-gravity traction combined with assisted ventilation: an effective pre-operative management for severe adult scoliosis complicated with respiratory dysfunction

Genome-wide association study identifies new susceptibility loci for adolescent idiopathic scoliosis in Chinese girls

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