Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency

1995 ◽  
Vol 18 (3) ◽  
pp. 283-290 ◽  
Author(s):  
C. Mize ◽  
J. L. Johnson ◽  
K. V. Rajagopalan
Keyword(s):  
Molybdenum Cofactor ◽  
Clinical Heterogeneity ◽  
Molybdenum Cofactor Deficiency ◽  
Cofactor Deficiency

Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome

2013 ◽  
Vol 28 (3) ◽  
pp. 399-401 ◽  
Author(s):  
Fadi Alkufri ◽  
Tim Harrower ◽  
Yusof Rahman ◽  
Elaine Hughes ◽  
Helen Mundy ◽  
...  
Keyword(s):  
Molybdenum Cofactor ◽  
Molybdenum Cofactor Deficiency ◽  
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

scholarly journals The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation

2021 ◽  
Vol 26 ◽  
pp. 100716
Author(s):  
Yu Abe ◽  
Yu Aihara ◽  
Wakaba Endo ◽  
Hiroshi Hasegawa ◽  
Kimiyoshi Ichida ◽  
...  
Keyword(s):  
Dietary Protein ◽  
Protein Restriction ◽  
Molybdenum Cofactor ◽  
Molybdenum Cofactor Deficiency ◽  
Dietary Protein Restriction ◽  
Cofactor Deficiency

Diagnosis of molybdenum cofactor deficiency

The Lancet ◽  
1999 ◽  
Vol 353 (9153) ◽  
pp. 675-676 ◽  
Author(s):  
William Stephen Waring ◽  
Simon Maxwell
Keyword(s):  
Molybdenum Cofactor ◽  
Molybdenum Cofactor Deficiency ◽  
Cofactor Deficiency

scholarly journals Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature

2020 ◽  
Vol Volume 13 ◽  
pp. 49-55
Author(s):  
MC Alonzo Martínez ◽  
E Cazorla ◽  
E Cánovas ◽  
K Anniuk ◽  
AE Cores ◽  
...  
Keyword(s):  
Molybdenum Cofactor ◽  
Review Of The Literature ◽  
Molybdenum Cofactor Deficiency ◽  
Cisterna Magna ◽  
Cofactor Deficiency

scholarly journals The association of molybdenum cofactor deficiency and pyloric stenosis

2012 ◽  
Vol 32 (11) ◽  
pp. 896-898 ◽  
Author(s):  
G Tezel ◽  
O Oztekin ◽  
S Kalay ◽  
A Aslan ◽  
M Akçakuş ◽  
...  
Keyword(s):  
Pyloric Stenosis ◽  
Molybdenum Cofactor ◽  
Molybdenum Cofactor Deficiency ◽  
Cofactor Deficiency

scholarly journals Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency

2015 ◽  
Vol 17 (12) ◽  
pp. 965-970 ◽  
Author(s):  
Konstantin Mechler ◽  
William K. Mountford ◽  
Georg F. Hoffmann ◽  
Markus Ries
Keyword(s):  
Quantitative Analysis ◽  
Natural History ◽  
Molybdenum Cofactor ◽  
Orphan Diseases ◽  
Molybdenum Cofactor Deficiency ◽  
History Of ◽  
Cofactor Deficiency

In vivo brain proton MR spectroscopy in a case of molybdenum cofactor deficiency

1999 ◽  
Vol 29 (11) ◽  
pp. 846-848 ◽  
Author(s):  
Anne-Marie Salvan ◽  
Brigitte Chabrol ◽  
Sylvie Lamoureux ◽  
Sylviane Confort-Gouny ◽  
Patrick J. Cozzone ◽  
...  
Keyword(s):  
Mr Spectroscopy ◽  
Molybdenum Cofactor ◽  
Proton Mr Spectroscopy ◽  
Molybdenum Cofactor Deficiency ◽  
Cofactor Deficiency
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