(Q34568220)

English

Clinical approach to treatable inborn metabolic diseases: an introduction

scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

1 reference

Europe PubMed Central

Clinical approach to treatable inborn metabolic diseases: an introduction (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

author name string

Saudubray JM

1

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Sedel F

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Walter JH

3

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

publication date

1 April 2006

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Europe PubMed Central

PubMed publication ID

3 August 2017

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

29

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Europe PubMed Central

PubMed publication ID

3 August 2017

2-3

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

261-274

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited metabolic diseases and pregnancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impact of diets and nutrients/drugs on early epigenetic programming

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treatment with amino acids in serine deficiency disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

L-arginine improves the symptoms of strokelike episodes in MELAS.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/16763886

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-006-0358-0

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

ResearchGate publication ID

0 references

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