Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers

2000 ◽  
Vol 20 (1) ◽  
pp. 7-11 ◽  
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

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

1998 ◽  
Vol 103 (6) ◽  
pp. 639-644 ◽  
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

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

The Lancet ◽  
2015 ◽  
Vol 386 (10007) ◽  
pp. 1955-1963 ◽  
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

Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP

PEDIATRICS ◽  
2010 ◽  
Vol 125 (5) ◽  
pp. e1249-e1254 ◽  
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

Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI

2018 ◽  
Vol 22 (3) ◽  
pp. 536-540 ◽  
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

scholarly journals Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B

2019 ◽  
Vol 18 ◽  
pp. 11-13 ◽  
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

Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples

1991 ◽  
Vol 14 (6) ◽  
pp. 932-937 ◽  
Author(s):  
J. L. Johnson ◽  
K. V. Rajagopalan ◽  
J. T. Lanman ◽  
R. B. H. Schutgens ◽  
A. H. van Gennip ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Oxidase Activity ◽  
Chorionic Villus ◽  
Molybdenum Cofactor ◽  
Molybdenum Cofactor Deficiency ◽  
Sulphite Oxidase ◽  
Cofactor Deficiency

scholarly journals Human Molybdopterin Synthase Gene: Genomic Structure and Mutations in Molybdenum Cofactor Deficiency Type B

1999 ◽  
Vol 64 (3) ◽  
pp. 706-711 ◽  
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
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