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: 1115A>T; His372Leu
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
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sallevelt, Suzanne C E H SCEH; Stegmann, Alexander P A APA; de Koning, Bart B; Velter, Crool C; Steyls, Anja A; van Esch, Melanie M; Lakeman, Phillis P; Yntema, Helger H; Esteki, Masoud Zamani MZ; de Die-Smulders, Christine E M CEM; Gilissen, Christian C; van den Wijngaard, Arthur A; Brunner, Han G HG; Paulussen, Aimée D C ADC
Publication Date: 2021-06
Variant appearance in text: GAA: 1115A>T; His372Leu
Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.
Orphanet Journal Of Rare Diseases
Vanherpe, P P; Fieuws, S S; D'Hondt, A A; Bleyenheuft, C C; Demaerel, P P; De Bleecker, J J; Van den Bergh, P P; Baets, J J; Remiche, G G; Verhoeven, K K; Delstanche, S S; Toussaint, M M; Buyse, B B; Van Damme, P P; Depuydt, C E CE; Claeys, K G KG
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,
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Nature Communications
Roig-Zamboni, Véronique V; Cobucci-Ponzano, Beatrice B; Iacono, Roberta R; Ferrara, Maria Carmina MC; Germany, Stanley S; Bourne, Yves Y; Parenti, Giancarlo G; Moracci, Marco M; Sulzenbacher, Gerlind G
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.
Orphanet Journal Of Rare Diseases
de Vries, Juna M JM; van der Beek, Nadine A M E NA; Hop, Wim C J WC; Karstens, Francois P J FP; Wokke, John H JH; de Visser, Marianne M; van Engelen, Baziel G M BG; Kuks, Jan B M JB; van der Kooi, Anneke J AJ; Notermans, Nicolette C NC; Faber, Catharina G CG; Verschuuren, Jan J G M JJ; Kruijshaar, Michelle E ME; Reuser, Arnold J J AJ; van Doorn, Pieter A PA; van der Ploeg, Ans T AT