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Population screening for Wilson's disease

Annals of the New York Academy of Sciences, 2014-05, Vol.1315 (1), p.64-69

Hahn, Si Houn

2014

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Tryptic Peptide Analysis of Ceruloplasmin in Dried Blood Spots Using Liquid Chromatography-Tandem Mass Spectrometry: Application to Newborn Screening

Clinical chemistry (Baltimore, Md.), 2008-12, Vol.54 (12), p.1961-1968

2008

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Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

Pediatrics international, 2012-10, Vol.54 (5), p.585-601

2012

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ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine

The Journal of clinical investigation, 2023-10, Vol.133 (19), p.1-16

2023

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Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2004-08, Vol.89 (8), p.3687-3693

2004

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Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson’s Disease

Journal of proteome research, 2017-02, Vol.16 (2), p.862-871

2017

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Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots

Frontiers in immunology, 2020-04, Vol.11, p.464

2020

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Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots

Frontiers in immunology, 2018-12, Vol.9, p.2756-2756

2018

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Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant

Pediatric neurology, 2016-07, Vol.60, p.79-82

2016

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Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry

Clinical chemistry (Baltimore, Md.), 2004-03, Vol.50 (3), p.621-625

2004

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Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease

Hepatology communications, 2022-07, Vol.6 (7), p.1611-1619

2022

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Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

American journal of human genetics, 2004-02, Vol.74 (2), p.239-252

2004

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p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease

JIMD reports, 2020-07, Vol.54 (1), p.32-36

2020

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Metabolic evaluation of children with global developmental delay

Korean journal of pediatrics, 2015-04, Vol.58 (4), p.117

2015

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The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

Molecular genetics & genomic medicine, 2020-04, Vol.8 (4), p.e1172-n/a

2020

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Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L)

Pediatrics international, 2013-12, Vol.55 (6), p.e156-e158

2013

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Automated Spectrophotometric Analysis of Mitochondrial Respiratory Chain Complex Enzyme Activities in Cultured Skin Fibroblasts

Clinical chemistry (Baltimore, Md.), 2005-11, Vol.51 (11), p.2110-2116

2005

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Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report

Clinica chimica acta, 2005-04, Vol.354 (1), p.167-180

2005

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Clinical molecular diagnosis of Wilson disease

Seminars in liver disease, 2011-08, Vol.31 (3), p.233-238

2011

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The genetics of Wilson disease

Handbook of Clinical Neurology, 2017, Vol.142, p.19-34

2017

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Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

Journal of medical genetics, 2015-03, Vol.52 (3), p.208-216

2015

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Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease

Gastroenterology (New York, N.Y. 1943), 2021-06, Vol.160 (7), p.2367-2382.e1

2021

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Wilson Disease--keeping the bar for diagnosis raised

Hepatology (Baltimore, Md.), 2005-10, Vol.42 (4), p.974

2005

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Connexin26 Mutations Associated With Nonsyndromic Hearing Loss

The Laryngoscope, 2000-09, Vol.110 (9), p.1535-1538

2000

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Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification

Genetics in medicine, 2005-05, Vol.7 (5), p.339-343

2005

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Population screening for Wilson's disease

Tryptic Peptide Analysis of Ceruloplasmin in Dried Blood Spots Using Liquid Chromatography-Tandem Mass Spectrometry: Application to Newborn Screening

Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine

Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia

Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson’s Disease

Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots

Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots

Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant

Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry

Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease

Metabolic evaluation of children with global developmental delay

The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L)

Automated Spectrophotometric Analysis of Mitochondrial Respiratory Chain Complex Enzyme Activities in Cultured Skin Fibroblasts

Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report

Clinical molecular diagnosis of Wilson disease

The genetics of Wilson disease

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease

Wilson Disease--keeping the bar for diagnosis raised

Connexin26 Mutations Associated With Nonsyndromic Hearing Loss

Genotypic differences of MCAD deficiency in the Asian population: Novel genotype and clinical symptoms preceding newborn screening notification

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