Tryptic Peptide Analysis of Ceruloplasmin in Dried Blood Spots Using Liquid Chromatography-Tandem Mass Spectrometry: Application to Newborn Screening von deWilde, Amy, Sadilkova, Katerina, Sadilek, Martin, Vasta, Valeria, Hahn, Si Houn

Volltext

Population screening for Wilson's disease von Hahn, Si Houn

Volltext

Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum von Vasta, Valeria, Merritt II, J Lawrence, Saneto, Russell P., Hahn, Si Houn

Volltext

ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine von Venkatarangan, Varsha, Zhang, Weichao, Yang, Xi, Thoene, Jess G, Hahn, Si H, Li, Ming

Volltext

Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia von Minutti, Carla Z., Lacey, Jean M., Magera, Mark J., Hahn, Si Houn, McCann, Mark, Schulze, Andreas, Cheillan, David, Dorche, Claude, Chace, Donald H., Lymp, James F., Zimmerman, Donald, Rinaldo, Piero, Matern, Dietrich

Volltext

Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson’s Disease von Jung, Sunhee, Whiteaker, Jeffrey R, Zhao, Lei, Yoo, Han-Wook, Paulovich, Amanda G, Hahn, Si Houn

Volltext

Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots von Collins, Christopher J, Yi, Fan, Dayuha, Remwilyn, Whiteaker, Jeffrey R, Ochs, Hans D, Freeman, Alexandra, Su, Helen C, Paulovich, Amanda G, Segundo, Gesmar R S, Torgerson, Troy, Hahn, Si Houn

Volltext

Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots von Collins, Christopher J, Chang, Irene J, Jung, Sunhee, Dayuha, Remwilyn, Whiteaker, Jeffrey R, Segundo, Gesmar R S, Torgerson, Troy R, Ochs, Hans D, Paulovich, Amanda G, Hahn, Si Houn

Volltext

Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant von Byers, Heather M., MD, Beatty, Christopher W., MD, Hahn, Si Houn, MD, PhD, Gospe, Sidney M., MD, PhD

Volltext

Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry von Lacey, Jean M, Minutti, Carla Z, Magera, Mark J, Tauscher, Angela L, Casetta, Bruno, McCann, Mark, Lymp, James, Hahn, Si Houn, Rinaldo, Piero, Matern, Dietrich

Volltext

Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease von Panzer, Marlene, Viveiros, André, Schaefer, Benedikt, Baumgartner, Nadja, Seppi, Klaus, Djamshidian, Atbin, Todorov, Theodor, Griffiths, William J. H., Schott, Eckart, Schuelke, Markus, Eurich, Dennis, Stättermayer, Albert Friedrich, Bomford, Adrian, Foskett, Pierre, Vodopiutz, Julia, Stauber, Rudolf, Pertler, Elke, Morell, Bernhard, Tilg, Herbert, Müller, Thomas, Kiechl, Stefan, Jimenez‐Heredia, Raul, Weiss, Karl Heinz, Hahn, Si Houn, Janecke, Andreas, Ferenci, Peter, Zoller, Heinz

Volltext

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein von Tiranti, Valeria, D’Adamo, Pio, Briem, Egill, Ferrari, Gianfrancesco, Mineri, Rossana, Lamantea, Eleonora, Mandel, Hanna, Balestri, Paolo, Garcia-Silva, Maria-Teresa, Vollmer, Brigitte, Rinaldo, Piero, Hahn, Si Houn, Leonard, James, Rahman, Shamima, Dionisi-Vici, Carlo, Garavaglia, Barbara, Gasparini, Paolo, Zeviani, Massimo

Volltext

p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease von Yi, Fan, Poskanzer, Sheri A., Myers, Candace T., Thies, Jenny, Collins, Christopher J., Dayuha, Remwilyn, Duong, Phi, Houwen, Roderick, Hahn, Si Houn

Volltext

Metabolic evaluation of children with global developmental delay von Eun, So-Hee, Hahn, Si Houn

Volltext

The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis von Poskanzer, Sheri A., Thies, Jenny, Collins, Christopher J., Myers, Candace T., Dayuha, Remwilyn, Duong, Phi, Yi, Fan, Chang, Irene J., Ochs, Hans D., Torgerson, Troy R., Hahn, Si Houn

Volltext

Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L) von Underhill, Hunter R, Hahn, Si Houn, Hale, Susan L, Merritt, J Lawrence

Volltext

Automated Spectrophotometric Analysis of Mitochondrial Respiratory Chain Complex Enzyme Activities in Cultured Skin Fibroblasts von Kramer, Karen A, Oglesbee, Devin, Hartman, Stacy J, Huey, Joe, Anderson, Bambi, Magera, Mark J, Matern, Dietrich, Rinaldo, Piero, Robinson, Brian H, Cameron, Jessie M, Hahn, Si Houn

Volltext

Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report von Yoon, Hye-Ran, Lee, Kyung Ryul, Kang, Seungwoo, Lee, Dong Hwan, Yoo, Han-Wook, Min, Won-Ki, Cho, Dong Hee, Shin, Son Moon, Kim, Jongwon, Song, Junghan, Yoon, Ho Joo, Seo, Sonsang, Hahn, Si Houn

Volltext

The genetics of Wilson disease von Chang, Irene J., Hahn, Si Houn

Volltext

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders von Chae, Jong Hee, Vasta, Valeria, Cho, Anna, Lim, Byung Chan, Zhang, Qing, Eun, So Hee, Hahn, Si Houn

Volltext