179 related articles for article (PubMed ID: 36447830)
1. A Case of Spondylodysplastic Ehlers-Danlos Syndrome With Comorbid Hypophosphatasia.
Dattagupta A; Williamson S; El Nihum LI; Petak S
AACE Clin Case Rep; 2022; 8(6):255-258. PubMed ID: 36447830
[TBL] [Abstract][Full Text] [Related]
2. A case of Ehlers-Danlos syndrome presenting as short stature: a novel mutation in
Agrawal P; Kaur H; Kondekar A; Rathi S
Oxf Med Case Reports; 2023 Jan; 2023(1):omac107. PubMed ID: 36727144
[TBL] [Abstract][Full Text] [Related]
3. Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.
Ritelli M; Dordoni C; Cinquina V; Venturini M; Calzavara-Pinton P; Colombi M
Orphanet J Rare Dis; 2017 Sep; 12(1):153. PubMed ID: 28882145
[TBL] [Abstract][Full Text] [Related]
4. Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-
Caraffi SG; Maini I; Ivanovski I; Pollazzon M; Giangiobbe S; Valli M; Rossi A; Sassi S; Faccioli S; Rocco MD; Magnani C; Campos-Xavier B; Unger S; Superti-Furga A; Garavelli L
Genes (Basel); 2019 Oct; 10(10):. PubMed ID: 31614862
[TBL] [Abstract][Full Text] [Related]
5. Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome.
Delbaere S; Van Damme T; Syx D; Symoens S; Coucke P; Willaert A; Malfait F
Matrix Biol; 2020 Jul; 89():59-75. PubMed ID: 31862401
[TBL] [Abstract][Full Text] [Related]
6. Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
Lorenz D; Kress W; Zaum AK; Speer CP; Hebestreit H
BMC Pediatr; 2021 Jun; 21(1):293. PubMed ID: 34193099
[TBL] [Abstract][Full Text] [Related]
7. Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa.
Kishnani PS; Del Angel G; Zhou S; Rush ET
Mol Genet Metab; 2021 May; 133(1):113-121. PubMed ID: 33814268
[TBL] [Abstract][Full Text] [Related]
8. Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.
Miyake N; Kosho T; Matsumoto N
Adv Exp Med Biol; 2021; 1348():235-249. PubMed ID: 34807422
[TBL] [Abstract][Full Text] [Related]
9. Status Epilepticus due to Asfotase Alfa Interruption in Perinatal Severe Hypophosphatasia.
Ogawa E; Shimura K; Yoshihashi H; Miyama S
Pediatr Neurol; 2022 May; 130():4-6. PubMed ID: 35303588
[TBL] [Abstract][Full Text] [Related]
10. Bone healing and reactivation of remodeling under asfotase alfa therapy in adult patients with pediatric-onset hypophosphatasia.
Stürznickel J; Schmidt FN; von Vopelius E; Delsmann MM; Schmidt C; Jandl NM; Oheim R; Barvencik F
Bone; 2021 Feb; 143():115794. PubMed ID: 33301963
[TBL] [Abstract][Full Text] [Related]
11. A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia.
Sugiyama Y; Watanabe T; Tajika M; Matsuhashi T; Shimura M; Fushimi T; Ichimoto K; Matsunaga A; Ebihara T; Tsuruoka T; Akiyama T; Murayama K
Orphanet J Rare Dis; 2022 Feb; 17(1):78. PubMed ID: 35197081
[TBL] [Abstract][Full Text] [Related]
12. Hypophosphatasia: From Diagnosis to Treatment.
Simon S; Resch H; Klaushofer K; Roschger P; Zwerina J; Kocijan R
Curr Rheumatol Rep; 2018 Sep; 20(11):69. PubMed ID: 30203264
[TBL] [Abstract][Full Text] [Related]
13. Two children with hypophosphatasia with a heterozygous c.1559delT variant in the
Kitoh H; Izawa M; Kaneko H; Kitamura A; Matsuyama S; Kato K; Ogi T
Bone Rep; 2022 Dec; 17():101626. PubMed ID: 36217348
[TBL] [Abstract][Full Text] [Related]
14. Asfotase Alfa: A Review in Paediatric-Onset Hypophosphatasia.
Scott LJ
Drugs; 2016 Feb; 76(2):255-62. PubMed ID: 26744272
[TBL] [Abstract][Full Text] [Related]
15. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Colombi M; Dordoni C; Chiarelli N; Ritelli M
Am J Med Genet C Semin Med Genet; 2015 Mar; 169C(1):6-22. PubMed ID: 25821090
[TBL] [Abstract][Full Text] [Related]
16. Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates.
Lefever E; Witters P; Gielen E; Vanclooster A; Meersseman W; Morava E; Cassiman D; Laurent MR
J Clin Densitom; 2020; 23(3):340-348. PubMed ID: 30655187
[TBL] [Abstract][Full Text] [Related]
17. Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
Ritelli M; Cinquina V; Giacopuzzi E; Venturini M; Chiarelli N; Colombi M
Genes (Basel); 2019 Aug; 10(9):. PubMed ID: 31438591
[TBL] [Abstract][Full Text] [Related]
18. A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the
Hacıhamdioğlu B; Özgürhan G; Pereira C; Tepeli E; Acar G; Cömert S
J Clin Res Pediatr Endocrinol; 2019 Sep; 11(3):306-310. PubMed ID: 30468149
[TBL] [Abstract][Full Text] [Related]
19. Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children.
Vogt M; Girschick H; Schweitzer T; Benoit C; Holl-Wieden A; Seefried L; Jakob F; Hofmann C
Orphanet J Rare Dis; 2020 Aug; 15(1):212. PubMed ID: 32811521
[TBL] [Abstract][Full Text] [Related]
20. Asfotase alfa: enzyme replacement for the treatment of bone disease in hypophosphatasia.
Hofmann C; Seefried L; Jakob F
Drugs Today (Barc); 2016 May; 52(5):271-85. PubMed ID: 27376160
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]