Glycogen Storage Disease Type III diagnosis and management guidelines von Kishnani, Priya S., Austin, Stephanie L., Arn, Pamela, Bali, Deeksha S., Boney, Anne, Case, Laura E., Chung, Wendy K., Desai, Dev M., El-Gharbawy, Areeg, Haller, Ronald, Smit, G. Peter A., Smith, Alastair D., Hobson-Webb, Lisa D., Wechsler, Stephanie Burns, Weinstein, David A., Watson, Michael S.

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Hepatocellular carcinoma in glycogen storage disease type Ia: A case series von Franco, L. M., Krishnamurthy, V., Bali, D., Weinstein, D. A., Arn, P., Clary, B., Boney, A., Sullivan, J., Frush, D. P., Chen, Y.‐T., Kishnani, P. S.

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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics von Kishnani, Priya S., Austin, Stephanie L., Abdenur, Jose E., Arn, Pamela, Bali, Deeksha S., Boney, Anne, Chung, Wendy K., Dagli, Aditi I., Dale, David, Koeberl, Dwight, Somers, Michael J., Burns Wechsler, Stephanie, Weinstein, David A., Wolfsdorf, Joseph I., Watson, Michael S.

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Radical‐free hyperpolarized MRI using endogenously occurring pyruvate analogues and UV‐induced nonpersistent radicals von Zanella, Claudia C., Capozzi, Andrea, Yoshihara, Hikari A. I., Radaelli, Alice, Mackowiak, Adèle L. C., Arn, Lionel P., Gruetter, Rolf, Bastiaansen, Jessica A. M.

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Polyelectrolyte-Enhanced Ultrafiltration (PEUF) Process for Low Level Arsenic Removal: Recovery of Polyelectrolyte from Retentate Stream von Haller, K.J., Pookrod, P., Dungkaew, W., Un-Arn, P.

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Association and genetic overlap between clinical chemistry tests and migraine von Tanha, Hamzeh M, Martin, Nicholas G, Whitfield, John B, Nyholt, Dale R

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Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1 von Rasmussen, S A, Colman, S D, Ho, V T, Abernathy, C R, Arn, P H, Weiss, L, Schwartz, C, Saul, R A, Wallace, M R

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Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus: A Cause of Postpartum Coma von Arn, Pamela Hawks, Hauser, Elizabeth R, Thomas, George H, Herman, Gail, Hess, David, Brusilow, Saul W

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Hyperphenylalaninemia with High Levels of 7-Biopterin is Associated with Mutations in the PCBD Gene Encoding the Bifunctional Protein Pterin-4a-Carbinolamine Dehydratase and Transc... von Thöny, Beat, Neuheiser, Frank, Kierat, Lucja, Blaskovics, Milan, Arn, Pamela H., Ferreira, Patrick, Rebrin, Igor, Ayling, June, Blau, Nenad

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Recessive mutations in PCBD1 cause a new type of early-onset diabetes von Simaite, D, Kofent, J, Gong, M, Ruschendorf, F, Jia, S, Arn, P, Bentler, K, Ellaway, C, Kuhnen, P, Hoffmann, G F, Blau, N, Spagnoli, F M, Hubner, N, Raile, K

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Outcome of pectus excavatum in patients with Marfan syndrome and in the general population von Arn, Pamela Hawks, Scherer, L.R., Haller, J. Alex, Pyeritiz, Reed E.

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Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including... von Huie, M.L., Kasper, J.S., Arn, P.H., Greenberg, C.R., Hirschhorn, R.

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Spectrum of Phenotypic Manifestations from a Single Point Mutation of the p63 Gene, Including New Cutaneous and Immunologic Findings von Steele, Jennifer A., Hansen, Heather, Arn, Pamela, Kwong, Pearl C.

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3-methylglutaconic aciduria disorders: the clinical spectrum increases von Arn, Pamela, Funanage, Vicky L

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Light Metals 2017 von Ratvik, Arne P

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Surgical management of children and young adults with marfan syndrome and pectus excavatum von Scherer, L.R., Arn, Pamela H., Dressel, Delverne A., Pyeritz, Reed M., Haller, J. Alex

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Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature von Arn, Pamela Hawks, Younie, Linda, Russo, Suzanne, Zackowski, Joleen L., Mankinen, Carl, Estabrooks, Laurel

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Mild mandibulofacial dysostosis in a child with a deletion of 3p von Arn, Pamela Hawks, Mankinen, Carl, Jabs, Ethylin W.

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Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome von Arn, Pamela H., Williams, Charles A., Zori, Roberto T., Driscoll, Daniel J., Rosenblatt, David S.

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SRVX, a sex reversing locus in Xp21.2→p22.11 von ARN, P, CHEN, H, TUCK-MULLER, C. M, MANKINEN, C, WACHTEL, G, SHIBO LI, SHEN, C.-C, WACHTEL, S. S

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