E-LIB Suche - Ergebnisse für: Petryk, Anna

1

Effectiveness of asfotase alfa for treatment of adults with..:

Kishnani, Priya S. ; Martos-Moreno, Gabriel Ángel ; Linglart, Agnès...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

2

New insights into the landscape of ALPL gene variants in pa..:

Kishnani, Priya S. ; Seefried, Lothar ; Dahir, Kathryn M....
American Journal of Medical Genetics Part A. , 2024

Link: https://doi.org/10.1002/..

3

Impact of muscular symptoms and/or pain on disease characte..:

Dahir, Kathryn M. ; Kishnani, Priya S. ; Martos-Moreno, Gabriel Ángel...
Frontiers in Endocrinology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

4

Effects of asfotase alfa in adults with pediatric-onset hyp..:

Seefried, Lothar ; Genest, Franca ; Petryk, Anna.
Bone. 175 (2023) - p. 116856 , 2023

Link: https://doi.org/10.1016/..

5

Clinical Profiles of Children with Hypophosphatasia prior t..:

Martos-Moreno, Gabriel Ángel ; Rockman-Greenberg, Cheryl ; Ozono, Keiichi...
Hormone Research in Paediatrics. 97 (2023) 3 - p. 233-242 , 2023

Link: https://doi.org/10.1159/..

6

P494: An analysis of ALPL gene variants in patients with hy..:

Kishnani, Priya ; Dahir, Kathryn ; Martos-Moreno, Gabriel...
Genetics in Medicine Open. 1 (2023) 1 - p. 100541 , 2023

Link: https://doi.org/10.1016/..

7

Improving care pathways for people living with rare bone di..:

Chandran, Manju ; Alves, Ines ; Carpenter, Thomas...
Osteoporosis International. 34 (2023) 8 - p. 1301-1310 , 2023

Link: https://doi.org/10.1007/..

8

Growth and disease burden in children with hypophosphatasia:

Högler, Wolfgang ; Linglart, Agnès ; Petryk, Anna...
Endocrine Connections. 12 (2023) 5 - p. , 2023

Link: https://doi.org/10.1530/..

9

Clinical profiles of treated and untreated adults with hypo..:

Dahir, Kathryn M. ; Seefried, Lothar ; Kishnani, Priya S....
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

10

Clinical and biochemical characteristics of adults with hyp..:

Desborough, Robert ; Nicklin, Philip ; Gossiel, Fatma...
Bone. 144 (2021) - p. 115795 , 2021

Link: https://doi.org/10.1016/..

11

Frequency of Ectopic Calcifications Among Patients With Hyp..:

Linglart, Agnes ; Dahir, Kathryn McCrystal ; Kishnani, Priya...
Journal of the Endocrine Society. 5 (2021) Supplement_1 - p. A261-A261 , 2021

Link: https://doi.org/10.1210/..

12

SUN-334 Real-World Clinical Profiles of Adults with Hypopho..:

Seefried, Lothar ; Rockman-Greenberg, Cheryl ; Fang, Shona...
Journal of the Endocrine Society. 4 (2020) Supplement_1 - p. , 2020

Link: https://doi.org/10.1210/..

13

An Adjunctive Use Of Asfotase Alfa and Zoledronic Acid Afte..:

Harindhanavudhi, Tasma ; Takahashi, Takashi ; Petryk, Anna.
AACE Clinical Case Reports. 6 (2020) 6 - p. e305-e310 , 2020

Link: https://doi.org/10.4158/..

14

Severe Congenital Hypothyroidism Due to a Novel Deep Intron..:

Larrivée-Vanier, Stéphanie ; Magne, Fabien ; Hamdoun, Elwaseila...
Journal of the Endocrine Society. 5 (2020) 3 - p. , 2020

Link: https://doi.org/10.1210/..

15

Dual X-ray absorptiometry has limited utility in detecting ..:

Simmons, Jill H. ; Rush, Eric T. ; Petryk, Anna..
Bone. 137 (2020) - p. 115413 , 2020

Link: https://doi.org/10.1016/..