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Nulibry (fosdenopterin) Approved to Reduce the Risk of Mortality in Patients with Molybdenum Cofactor Deficiency Type A: FDA Approval Summary
Journal of Inherited Metabolic Disease
◽
10.1002/jimd.12421
◽
2021
◽
Author(s):
Sheila Farrell
◽
Jacqueline Karp
◽
Rebecca Hager
◽
Yan Wang
◽
Oluseyi Adeniyi
◽
...
Keyword(s):
Type A
◽
Molybdenum Cofactor
◽
Molybdenum Cofactor Deficiency
◽
Fda Approval
◽
Risk Of Mortality
◽
Deficiency Type
◽
Cofactor Deficiency
Download Full-text
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References
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A
Human Genetics
◽
10.1007/s004390050884
◽
1998
◽
Vol 103
(6)
◽
pp. 639-644
◽
Cited By ~ 40
Author(s):
J. Reiss
◽
Ernst Christensen
◽
Gerhard Kurlemann
◽
Marie-Therese Zabot
◽
Claude Dorche
Keyword(s):
Genomic Structure
◽
Type A
◽
Molybdenum Cofactor
◽
Molybdenum Cofactor Deficiency
◽
Mutational Spectrum
◽
Deficiency Type
◽
Cofactor Deficiency
Download Full-text
Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers
Prenatal Diagnosis
◽
10.1002/(sici)1097-0223(200001)20:1<7::aid-pd740>3.0.co;2-q
◽
2000
◽
Vol 20
(1)
◽
pp. 7-11
◽
Cited By ~ 13
Author(s):
Adel Shalata
◽
Hanna Mandel
◽
Claude Dorche
◽
Marie-Therese Zabot
◽
Stavit Shalev
◽
...
Keyword(s):
Prenatal Diagnosis
◽
Dna Markers
◽
Type A
◽
Molybdenum Cofactor
◽
Carrier Detection
◽
Molybdenum Cofactor Deficiency
◽
Deficiency Type
◽
Cofactor Deficiency
Download Full-text
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study
The Lancet
◽
10.1016/s0140-6736(15)00124-5
◽
2015
◽
Vol 386
(10007)
◽
pp. 1955-1963
◽
Cited By ~ 66
Author(s):
Bernd C Schwahn
◽
Francjan J Van Spronsen
◽
Abdel A Belaidi
◽
Stephen Bowhay
◽
John Christodoulou
◽
...
Keyword(s):
Cohort Study
◽
Prospective Cohort Study
◽
Prospective Cohort
◽
Type A
◽
Molybdenum Cofactor
◽
Efficacy And Safety
◽
Molybdenum Cofactor Deficiency
◽
Deficiency Type
◽
Cofactor Deficiency
Download Full-text
Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP
PEDIATRICS
◽
10.1542/peds.2009-2192
◽
2010
◽
Vol 125
(5)
◽
pp. e1249-e1254
◽
Cited By ~ 126
Author(s):
A. Veldman
◽
J. A. Santamaria-Araujo
◽
S. Sollazzo
◽
J. Pitt
◽
R. Gianello
◽
...
Keyword(s):
Successful Treatment
◽
Type A
◽
Molybdenum Cofactor
◽
Molybdenum Cofactor Deficiency
◽
Deficiency Type
◽
Cofactor Deficiency
Download Full-text
Coexistence of molybdenum cofactor deficiency type A and hypertrophic pyloric stenosis, a new case
Türk Pediatri Arşivi
◽
10.14744/turkpediatriars.2020.57984
◽
2020
◽
Author(s):
Mehmet Satar
Keyword(s):
Pyloric Stenosis
◽
Hypertrophic Pyloric Stenosis
◽
Type A
◽
Molybdenum Cofactor
◽
Molybdenum Cofactor Deficiency
◽
Deficiency Type
◽
Cofactor Deficiency
Download Full-text
Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI
European Journal of Paediatric Neurology
◽
10.1016/j.ejpn.2017.11.006
◽
2018
◽
Vol 22
(3)
◽
pp. 536-540
◽
Cited By ~ 2
Author(s):
Charlotte M.A. Lubout
◽
Terry G.J. Derks
◽
Linda Meiners
◽
Jan Jaap Erwich
◽
Klasien A. Bergman
◽
...
Keyword(s):
Type A
◽
Molybdenum Cofactor
◽
Molybdenum Cofactor Deficiency
◽
Deficiency Type
◽
Cofactor Deficiency
Download Full-text
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B
Molecular Genetics and Metabolism Reports
◽
10.1016/j.ymgmr.2018.12.003
◽
2019
◽
Vol 18
◽
pp. 11-13
◽
Cited By ~ 2
Author(s):
Fady Hannah-Shmouni
◽
Lauren MacNeil
◽
Murray Potter
◽
Rebekah Jobling
◽
Grace Yoon
◽
...
Keyword(s):
Molybdenum Cofactor
◽
Cystic Degeneration
◽
Type B
◽
Molybdenum Cofactor Deficiency
◽
Intractable Seizures
◽
Deficiency Type
◽
Cofactor Deficiency
Download Full-text
Human Molybdopterin Synthase Gene: Genomic Structure and Mutations in Molybdenum Cofactor Deficiency Type B
The American Journal of Human Genetics
◽
10.1086/302296
◽
1999
◽
Vol 64
(3)
◽
pp. 706-711
◽
Cited By ~ 51
Author(s):
J. Reiss
◽
C. Dorche
◽
B. Stallmeyer
◽
R.R. Mendel
◽
N. Cohen
◽
...
Keyword(s):
Genomic Structure
◽
Molybdenum Cofactor
◽
Type B
◽
Molybdenum Cofactor Deficiency
◽
Deficiency Type
◽
Cofactor Deficiency
Download Full-text
Maintenance of disease-relevant biomarker improvement in patients with Molybdenum Cofactor Deficiency (MoCD) Type A administered ALXN1101, a synthetic form of cyclic pyranopterin monophosphate
European Journal of Paediatric Neurology
◽
10.1016/j.ejpn.2017.04.1003
◽
2017
◽
Vol 21
◽
pp. e124
Author(s):
E. Watsky
◽
N. Kuklin
◽
M. Hamilton
◽
S. Barr
Keyword(s):
Type A
◽
Molybdenum Cofactor
◽
Molybdenum Cofactor Deficiency
◽
Cofactor Deficiency
◽
Synthetic Form
Download Full-text
A neonate with molybdenum cofactor deficiency type B
Translational Pediatrics
◽
10.21037/tp-20-357
◽
2021
◽
Vol 10
(4)
◽
pp. 1039-1044
Author(s):
Yuanyuan Lin
◽
Yanli Liu
◽
Si Chen
◽
Jianghu Zhu
◽
Yumei Huang
◽
...
Keyword(s):
Molybdenum Cofactor
◽
Type B
◽
Molybdenum Cofactor Deficiency
◽
Deficiency Type
◽
Cofactor Deficiency
Download Full-text
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