Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 do... von Longo, Nicola, MD, Harding, Cary O, MD, Burton, Barbara K, MD, Grange, Dorothy K, MD, Vockley, Jerry, MD, Wasserstein, Melissa, MD, Rice, Gregory M, MD, Dorenbaum, Alejandro, MD, Neuenburg, Jutta K, MD, Musson, Donald G, PhD, Gu, Zhonghua, PhD, Sile, Saba, MD

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Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial von Ney, Denise M, Stroup, Bridget M, Clayton, Murray K, Murali, Sangita G, Rice, Gregory M, Rohr, Frances, Levy, Harvey L

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Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness von George, Aman, Zand, Dina J., Hufnagel, Robert B., Sharma, Ruchi, Sergeev, Yuri V., Legare, Janet M., Rice, Gregory M., Scott Schwoerer, Jessica A., Rius, Mariana, Tetri, Laura, Gamm, David M., Bharti, Kapil, Brooks, Brian P.

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Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay von Zepeda‐Mendoza, Cinthya, Goodenberger, McKinsey L., Kuhl, Ashley, Rice, Gregory M., Hoppman, Nicole

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Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria von Stroup, Bridget M., Held, Patrice K., Williams, Phillip, Clayton, Murray K., Murali, Sangita G., Rice, Gregory M., Ney, Denise M.

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Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community von Scott Schwoerer, Jessica, van Calcar, Sandra, Rice, Gregory M., Deline, James

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Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a thre... von Hendee, Kathryn, Wang, Lauren Weiping, Reis, Linda M., Rice, Gregory M., Apte, Suneel S., Semina, Elena V.

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Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency von Kellom, Elizabeth R., Wolf, Barry, Rice, Gregory M., Stepien, Kimberly E.

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Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy von Tam, Allison, AlDhaheri, Noura Salem, Mysore, Krupa, Tessier, Mary Elizabeth, Goss, John, Fernandez, Luis A., D'Alessandro, Anthony M., Schwoerer, Jessica Scott, Rice, Gregory M., Elsea, Sarah H., Scaglia, Fernando

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Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome von Reynolds, Kara K., Juusola, Jane, Rice, Gregory M., Giampietro, Philip F.

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Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy von Lim, Jaehyung, Shayota, Brian J., Lay, Erica, Elsea, Sarah H., Bekheirnia, Mir Reza, Tessier, Mary Elizabeth M., Kralik, Stephen F., Rice, Gregory M., Soler-Alfonso, Claudia, Scaglia, Fernando

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Inborn Errors of Metabolism (Metabolic Disorders) von Rice, Gregory M, Steiner, Robert D

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Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017 von Held, Patrice K., Rice, Gregory M., Kuhl, Ashley, Drilias, Nicoletta, Baker, Mei, Deline, James, Spicer, Gretchen, Sandrock, Claire, Seroogy, Christine M., Schwoerer, Jessica Scott

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Volatile anesthesia for a pediatric patient with very long‐chain acyl‐coenzyme A dehydrogenase deficiency: A case report von Hess, Aaron S., Rice, Gregory M., Jochman, John D., Muldowney, Bridget L., Polaner, David

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Phenotype of FOXP2 haploinsufficiency in a mother and son von Rice, Gregory M., Raca, Gordana, Jakielski, Kathy J., Laffin, Jennifer J., Iyama‐Kurtycz, Christina M., Hartley, Sigan L., Sprague, Rae E., Heintzelman, Anne T., Shriberg, Lawrence D.

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Mild clinical presentation in a child with prenatally diagnosed 45,X/47,XX,+18 mosaicism von Tyler, Chanel T., Rice, Gregory M., Grady, Margo, Raca, Gordana

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A Case of Congenitally Absent Left Internal Carotid Artery: Vascular Malformations in 22q11.2 Deletion Syndrome von Johnson, Matthew D., Gentry, Lindell R., Rice, Gregory M., Mount, Delora L.

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The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia von Dimmock, David P., Trapane, Pamela, Feigenbaum, Annette, Keegan, Catherine E., Cederbaum, Stephen, Gibson, James, Gambello, Michael J., Vaux, Keith, Ward, Patricia, Rice, Gregory M., Wolff, Jon A., O'Brien, William E., Fang, Ping

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TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features von Balestrini, Simona, Milh, Mathieu, Castiglioni, Claudia, Lüthy, Kevin, Finelli, Mattea J, Verstreken, Patrik, Cardon, Aaron, Stražišar, Barbara Gnidovec, Holder, J Lloyd, Lesca, Gaetan, Mancardi, Maria M, Poulat, Anne L, Repetto, Gabriela M, Banka, Siddharth, Bilo, Leonilda, Birkeland, Laura E, Bosch, Friedrich, Brockmann, Knut, Cross, J Helen, Doummar, Diane, Félix, Temis M, Giuliano, Fabienne, Hori, Mutsuki, Hüning, Irina, Kayserili, Hulia, Kini, Usha, Lees, Melissa M, Meenakshi, Girish, Mewasingh, Leena, Pagnamenta, Alistair T, Peluso, Silvio, Mey, Antje, Rice, Gregory M, Rosenfeld, Jill A, Taylor, Jenny C, Troester, Matthew M, Stanley, Christine M, Ville, Dorothee, Walkiewicz, Magdalena, Falace, Antonio, Fassio, Anna, Lemke, Johannes R, Biskup, Saskia, Tardif, Jessica, Ajeawung, Norbert F, Tolun, Aslihan, Corbett, Mark, Gecz, Jozef, Afawi, Zaid, Howell, Katherine B, Oliver, Karen L, Berkovic, Samuel F, Scheffer, Ingrid E, de Falco, Fabrizio A, Oliver, Peter L, Striano, Pasquale, Zara, Federico, Campeau, Phillipe M, Sisodiya, S.M

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Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia von Dimmock, David, Trapane, Pamela, Feigenbaum, Annette, Keegan, Catherine E, Cederbaum, Stephen, Gibson, James, Gambello, Michael J, Vaux, Keith, Ward, Patricia, Rice, Gregory M, Wolff, Jon A, O'Brien, William E, Fang, Ping

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