P043: Experiences with VLCADD in the Old Order Amish community von Anderson, Rhonda, Ammous, Zineb, Bertsch, Nicole

Volltext

Cholbam® and Zellweger spectrum disorders: treatment implementation and management von Anderson, Janaina Nogueira, Ammous, Zineb, Eroglu, Yasemen, Hernandez, Erick, Heubi, James, Himes, Ryan, Palle, Sirish

Volltext

P119: Molecular basis of adducted thumbs syndrome in the Old Order Amish community von Bertsch, Nicole, Ammous, Zineb, Puffenberger, Erik, Anderson, Rhonda

Volltext

P803: Cautionary tale on preconception counseling and genetic testing in a case of non-ketotic hyperglycinemia (NKH) in dichorionic diamniotic twins von Krueger, Laura, Muchmore, Brian, Connolly, Christopher, Ammous, Zineb, Wagner, Mallory, Keegan, Catherine, Ames, Elizabeth

Volltext

A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder von Ammous, Zineb, Rawlins, Lettie E., Jones, Hannah, Leslie, Joseph S., Wenger, Olivia, Scott, Ethan, Deline, Jim, Herr, Tom, Evans, Rebecca, Scheid, Angela, Kennedy, Joanna, Chioza, Barry A., Ames, Ryan M., Cross, Harold E., Puffenberger, Erik G., Harries, Lorna, Baple, Emma L., Crosby, Andrew H.

Volltext

Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier von Bowser, Lauren E., Young, Millie, Wenger, Olivia K., Ammous, Zineb, Brigatti, Karlla W., Carson, Vincent J., Moser, Teresa, Deline, James, Aoki, Kazuhiro, Morlet, Thierry, Scott, Ethan M., Puffenberger, Erik G., Robinson, Donna L., Hendrickson, Christine, Salvin, Jonathan, Gottlieb, Steven, Heaps, Adam D., Tiemeyer, Michael, Strauss, Kevin A.

Volltext

Natural history of propionic acidemia in the Amish population von Ehrenberg, Sarah, Walsh Vockley, Catherine, Heiman, Paige, Ammous, Zineb, Wenger, Olivia, Vockley, Jerry, Ghaloul-Gonzalez, Lina

Volltext

Re‐assigned diagnosis of D4ST1‐deficient Ehlers‐Danlos syndrome (adducted thumb‐clubfoot syndrome) after initial diagnosis of Marden‐Walker syndrome von Winters, Kevin A., Jiang, Zhijie, Xu, Weihong, Li, Shibo, Ammous, Zineb, Jayakar, Parul, Wierenga, Klaas J.

Volltext

PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis von Aggarwal, Varun, Dobrolet, Nancy, Fishberger, Steven, Zablah, Jenny, Jayakar, Parul, Ammous, Zineb

Volltext

eP075: The evolution of a diagnostic odyssey von Ammous, Zineb, Bertsch, Nicole, Anderson, Rhonda, Wakefield, Elaine, Arnold, Lori, Deetz, Pam, Puffenberger, Erik

Volltext

Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype von Enns, Gregory M., Ammous, Zineb, Himes, Ryan W., Nogueira, Janaina, Palle, Sirish, Sullivan, Meghan, Ramirez, Charina

Volltext

IDENTIFYING A MADD-LIKE BIOCHEMICAL IMPOSTER BETTER KNOWN AS FLAVIN ADENINE DINUCLEOTIDE SYNTHASE DEFICIENCY: A RETROSPECTIVE CLIR APPROACH von Stander, Zinandré, Ammous, Zineb, Werker, Joanne, Miller, Marcus, Sapp, Katherine, Hainline, Bryan, Mendelsohn, Bryce, Studinski, April, Schultz, Matthew, Hall, Patricia, Matern, Dietrich, Tortorelli, Silvia, Oglesbee, Devin, Gavrilov, Dimitar

Volltext

Lessons learned from 5-years of experience with pegvaliase in US clinics: A case series von Cooney, Erin, Ammous, Zineb, Andersson, Hans, Bender, Tricia, Clague, Gillian, Clifford, Marilyn, Crutcher, Angela, Davis-Keppen, Laura, Havens, Kirsten, Lah, Melissa, Sacharow, Stephanie, Sanchez-Valle, Amarilis, Vucko, Erika, Wardley, Bridget, Wessenberg, Leah

Volltext

Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry von Griffin, Chandler, Ammous, Zineb, Vance, Gail H., Graham, Brett H., Miller, Marcus J.

Volltext

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy von Grange, Laura J., Reynolds, John J., Ullah, Farid, Isidor, Bertrand, Shearer, Robert F., Latypova, Xenia, Baxley, Ryan M., Oliver, Antony W., Ganesh, Anil, Cooke, Sophie L., Jhujh, Satpal S., McNee, Gavin S., Hollingworth, Robert, Higgs, Martin R., Natsume, Toyoaki, Khan, Tahir, Martos-Moreno, Gabriel Á., Chupp, Sharon, Mathew, Christopher G., Parry, David, Simpson, Michael A., Nahavandi, Nahid, Yüksel, Zafer, Drasdo, Mojgan, Kron, Anja, Vogt, Petra, Jonasson, Annemarie, Seth, Saad Ahmed, Gonzaga-Jauregui, Claudia, Brigatti, Karlla W., Stegmann, Alexander P. A., Kanemaki, Masato, Josifova, Dragana, Uchiyama, Yuri, Oh, Yukiko, Morimoto, Akira, Osaka, Hitoshi, Ammous, Zineb, Argente, Jesús, Matsumoto, Naomichi, Stumpel, Constance T.R.M., Taylor, Alexander M. R., Jackson, Andrew P., Bielinsky, Anja-Katrin, Mailand, Niels, Le Caignec, Cedric, Davis, Erica E., Stewart, Grant S.

Volltext

RSRCI loss-of-function variants cause mild to moderate autosomal recessive intellectual disability von Scala, Marcello, Mojarrad, Majid, Riazuddin, Saima, Brigatti, Karlla W., Ammous, Zineb, Cohen, Julie S., Hosny, Heba, Usmani, Muhammad A., Shahzad, Mohsin, Riazuddin, Sheikh, Stanley, Valentina, Eslahi, Atiye, Person, Richard E., Elbendary, Hasnaa M., Comi, Anne M., Poskitt, Laura, Salpietro, Vincenzo, Rosenfeld, Jill A., Williams, Katie B., Marafi, Dana, Xia, Fan, Waberski, Marta Biderman, Zaki, Maha S., Gleeson, Joseph, Puffenberger, Erik, Houlden, Henry, Maroofian, Reza

Volltext

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay von Morimoto, Marie, Waller-Evans, Helen, Ammous, Zineb, Song, Xiaofei, Strauss, Kevin A., Pehlivan, Davut, Gonzaga-Jauregui, Claudia, Puffenberger, Erik G., Holst, Charles R., Karaca, Ender, Brigatti, Karlla W., Maguire, Emily, Coban-Akdemir, Zeynep H., Amagata, Akiko, Lau, C. Christopher, Chepa-Lotrea, Xenia, Macnamara, Ellen, Tos, Tulay, Isikay, Sedat, Nehrebecky, Michele, Overton, John D., Klein, Matthew, Markello, Thomas C., Posey, Jennifer E., Adams, David R., Lloyd-Evans, Emyr, Lupski, James R., Gahl, William A., Malicdan, May Christine V.

Volltext

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability von Scala, Marcello, Mojarrad, Majid, Riazuddin, Saima, Brigatti, Karlla W, Ammous, Zineb, Cohen, Julie S, Hosny, Heba, Usmani, Muhammad A, Shahzad, Mohsin, Riazuddin, Sheikh, Stanley, Valentina, Eslahi, Atiye, Person, Richard E, Elbendary, Hasnaa M, Comi, Anne M, Poskitt, Laura, Salpietro, Vincenzo, Genomics, Queen Square, Rosenfeld, Jill A, Williams, Katie B, Marafi, Dana, Xia, Fan, Biderman Waberski, Marta, Zaki, Maha S, Gleeson, Joseph, Puffenberger, Erik, Houlden, Henry, Maroofian, Reza

Volltext

FLAVIN ADENOSINE DINUCLEOTIDE SYNTHASE DEFICIENCY AN ATYPICAL CLINICAL PRESENTATION WITH A PUZZLING BIOCHEMICAL DERANGEMENT von Stander, Zinandre, Ammous, Zineb, Werker, Jody, Studinski, April, Tortorelli, Silvia, Matern, Dietrich, Schultz, Matthew, Raymond, Kimiyo, Oglesbee, Devin, Gavrilov, Dimitar

Volltext

PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis von Aggarwal, Varun, Dobrolet, Nancy, Fishberger, Steven, Zablah, Jenny, Jayakar, Parul, Ammous, Zineb

Volltext