(Q50569035)

English

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

scientific article published on 3 September 2015

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scholarly article

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Europe PubMed Central

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23 February 2020

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

1 reference

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23 February 2020

molybdenum cofactor deficiency

1 reference

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inferred from title

molybdenum cofactor deficiency type A

1 reference

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John Christodoulou

5

1 reference

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23 February 2020

Abdel A. Belaidi

3

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23 February 2020

Terry G J Derks

6

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23 February 2020

13

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23 February 2020

Guenter Schwarz

20

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23 February 2020

author name string

Bernd C Schwahn

1

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23 February 2020

Francjan J Van Spronsen

2

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23 February 2020

Stephen Bowhay

4

1 reference

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23 February 2020

Julia B Hennermann

7

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23 February 2020

Elisabeth Jameson

8

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23 February 2020

Kai König

9

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23 February 2020

Tracy L McGregor

10

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23 February 2020

Esperanza Font-Montgomery

11

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23 February 2020

José A Santamaria-Araujo

12

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23 February 2020

Mamta Vaidya

14

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23 February 2020

Anne Vierzig

15

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23 February 2020

Evangeline Wassmer

16

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23 February 2020

Ilona Weis

17

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23 February 2020

Flora Y Wong

18

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23 February 2020

Alex Veldman

19

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23 February 2020

language of work or name

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3 September 2015

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23 February 2020

1 reference

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23 February 2020

386

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23 February 2020

1955-1963

1 reference

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23 February 2020

10007

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23 February 2020

Clinical neuroimaging features and outcome in molybdenum cofactor deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Molybdenum cofactor deficiency associated with Dandy-Walker complex

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Molybdenum cofactor deficiency: clinical features in a Turkish patient

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Molybdenum cofactor biosynthesis and deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Molybdenum cofactors, enzymes and pathways

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the molybdenum cofactor biosynthetic genesMOCS1, MOCS2, andGEPH

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Successful treatment of molybdenum cofactor deficiency type A with cPMP.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

The tetrahydropyranopterin structure of the sulfur-free and metal-free molybdenum cofactor precursor

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure and stability of the molybdenum cofactor intermediate cyclic pyranopterin monophosphate

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal brain disruption in molybdenum cofactor deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Timing of cerebral developmental disruption in molybdenum cofactor deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2815%2900124-5

7 January 2021

based on heuristic

inferred from DOI database lookup

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