Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: GAA: 875A>G; Tyr292Cys
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.
Orphanet Journal Of Rare Diseases
van Kooten, Harmke A HA; Ditters, Imke A M IAM; Hoogeveen-Westerveld, Marianne M; Jacobs, Edwin H EH; van den Hout, Johanna M P JMP; van Doorn, Pieter A PA; Pijnappel, W W M Pim WWMP; van der Ploeg, Ans T AT; van der Beek, Nadine A M E NAME
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.
Orphanet Journal Of Rare Diseases
van Kooten, Harmke A HA; Ditters, Imke A M IAM; Hoogeveen-Westerveld, Marianne M; Jacobs, Edwin H EH; van den Hout, Johanna M P JMP; van Doorn, Pieter A PA; Pijnappel, W W M Pim WWMP; van der Ploeg, Ans T AT; van der Beek, Nadine A M E NAME
Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.
Children (Basel, Switzerland)
Park, Kyung-Sun KS
Publication Date: 2021-07-16
Variant appearance in text: GAA: 875A>G; Tyr292Cys
Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.
Orphanet Journal Of Rare Diseases
Hernández-Arévalo, Paula P; Santotoribio, José D JD; Delarosa-Rodríguez, Rocío R; González-Meneses, Antonio A; García-Morillo, Salvador S; Jiménez-Arriscado, Pilar P; Guerrero, Juan M JM; Macher, Hada C HC
Publication Date: 2021-05-21
Variant appearance in text: GAA: 875A>G; Tyr292Cys
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: GAA: 875A>G; Tyr292Cys; rs1057516600
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,
Publication Date: 2019-11
Variant appearance in text: GAA: 875A>G; Tyr292Cys
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Human Mutation
Niño, Monica Y MY; In 't Groen, Stijn L M SLM; Bergsma, Atze J AJ; van der Beek, Nadine A M E NAME; Kroos, Marian M; Hoogeveen-Westerveld, Marianne M; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP
Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.
Korean Journal Of Pediatrics
Kim, Min-Sun MS; Song, Ari A; Im, Minji M; Huh, June J; Kang, I-Seok IS; Song, Jinyoung J; Yang, Aram A; Kim, Jinsup J; Kwon, Eun-Kyung EK; Choi, Eu-Jin EJ; Han, Sun-Ju SJ; Park, Hyung-Doo HD; Cho, Sung Yoon SY; Jin, Dong-Kyu DK
Publication Date: 2019-06
Variant appearance in text: GAA: 875A>G; Tyr292Cys
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.
Journal Of Inherited Metabolic Disease
van der Meijden, Jan C JC; Kruijshaar, Michelle E ME; Harlaar, Laurike L; Rizopoulos, Dimitris D; van der Beek, Nadine A M E NAME; van der Ploeg, Ans T AT
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
Orphanet Journal Of Rare Diseases
van Capelle, C I CI; van der Meijden, J C JC; van den Hout, J M P JM; Jaeken, J J; Baethmann, M M; Voit, T T; Kroos, M A MA; Derks, T G J TG; Rubio-Gozalbo, M E ME; Willemsen, M A MA; Lachmann, R H RH; Mengel, E E; Michelakakis, H H; de Jongste, J C JC; Reuser, A J J AJ; van der Ploeg, A T AT