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Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease. [electronic resource] by
- Hunley, Tracy E
- Corzo, Deyanira
- Dudek, Martha
- Kishnani, Priya
- Amalfitano, Andrea
- Chen, Yuan-Tsong
- Richards, Susan M
- Phillips, John A
- Fogo, Agnes B
- Tiller, George E
Producer: 20050214
In:
Pediatrics vol. 114
Availability: No items available.
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Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients. [electronic resource] by
- Choo, Hye Jung
- Cho, Tae-Joon
- Song, Junghan
- Tiller, George E
- Lee, Sun Hee
- Park, Gunbo
- Lee, In Sook
- Lachman, Ralph
- Superti-Furga, Andrea
- Kim, Ok-Hwa
Producer: 20130312
In:
Skeletal radiology vol. 41
Availability: No items available.
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A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay. [electronic resource] by
- Baratela, Wagner A R
- Bober, Michael B
- Tiller, George E
- Okenfuss, Ericka
- Ditro, Colleen
- Duker, Angela
- Krakow, Deborah
- Stabley, Deborah L
- Sol-Church, Katia
- Mackenzie, William
- Lachman, Ralph
- Scott, Charles I
Producer: 20121105
In:
American journal of medical genetics. Part A vol. 158A
Availability: No items available.
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7.
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Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. [electronic resource] by
- Grewal, Satkiran S
- Wynn, Robert
- Abdenur, Jose E
- Burton, Barbara K
- Gharib, Maged
- Haase, Claudia
- Hayashi, Robert J
- Shenoy, Shalini
- Sillence, David
- Tiller, George E
- Dudek, Martha E
- van Royen-Kerkhof, Annet
- Wraith, James E
- Woodard, Paul
- Young, Guy A
- Wulffraat, Nico
- Whitley, Chester B
- Peters, Charles
Producer: 20050607
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 7
Availability: No items available.
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Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. [electronic resource] by
- Wortmann, Saskia B
- Chen, Margaret A
- Colombo, Roberto
- Pontoglio, Alessandro
- Alhaddad, Bader
- Botto, Lorenzo D
- Yuzyuk, Tatiana
- Coughlin, Curtis R
- Descartes, Maria
- Grűnewald, Stephanie
- Maranda, Bruno
- Mills, Philippa B
- Pitt, James
- Potente, Catherine
- Rodenburg, Richard
- Kluijtmans, Leo A J
- Sampath, Srirangan
- Pai, Emil F
- Wevers, Ron A
- Tiller, George E
Producer: 20170824
In:
Journal of inherited metabolic disease vol. 40
Availability: No items available.
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Defining the clinical phenotype of Saul-Wilson syndrome. [electronic resource] by
- Ferreira, Carlos R
- Zein, Wadih M
- Huryn, Laryssa A
- Merker, Andrea
- Berger, Seth I
- Wilson, William G
- Tiller, George E
- Wolfe, Lynne A
- Merideth, Melissa
- Carvalho, Daniel R
- Duker, Angela L
- Bratke, Heiko
- Haug, Marte Gjøl
- Rohena, Luis
- Hove, Hanne B
- Xia, Zhi-Jie
- Ng, Bobby G
- Freeze, Hudson H
- Gabriel, Melissa
- Russi, Alvaro H Serrano
- Brick, Lauren
- Kozenko, Mariya
- Earl, Dawn L
- Tham, Emma
- Nishimura, Gen
- Phillips, John A
- Gahl, William A
- Hamid, Rizwan
- Jackson, Andrew P
- Grigelioniene, Giedre
- Bober, Michael B
Producer: 20210423
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 22
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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. [electronic resource] by
- Ferreira, Carlos R
- Xia, Zhi-Jie
- Clément, Aurélie
- Parry, David A
- Davids, Mariska
- Taylan, Fulya
- Sharma, Prashant
- Turgeon, Coleman T
- Blanco-Sánchez, Bernardo
- Ng, Bobby G
- Logan, Clare V
- Wolfe, Lynne A
- Solomon, Benjamin D
- Cho, Megan T
- Douglas, Ganka
- Carvalho, Daniel R
- Bratke, Heiko
- Haug, Marte Gjøl
- Phillips, Jennifer B
- Wegner, Jeremy
- Tiemeyer, Michael
- Aoki, Kazuhiro
- Nordgren, Ann
- Hammarsjö, Anna
- Duker, Angela L
- Rohena, Luis
- Hove, Hanne Buciek
- Ek, Jakob
- Adams, David
- Tifft, Cynthia J
- Onyekweli, Tito
- Weixel, Tara
- Macnamara, Ellen
- Radtke, Kelly
- Powis, Zöe
- Earl, Dawn
- Gabriel, Melissa
- Russi, Alvaro H Serrano
- Brick, Lauren
- Kozenko, Mariya
- Tham, Emma
- Raymond, Kimiyo M
- Phillips, John A
- Tiller, George E
- Wilson, William G
- Hamid, Rizwan
- Malicdan, May C V
- Nishimura, Gen
- Grigelioniene, Giedre
- Jackson, Andrew
- Westerfield, Monte
- Bober, Michael B
- Gahl, William A
- Freeze, Hudson H
Producer: 20190514
In:
American journal of human genetics vol. 103
Availability: No items available.
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