| P2093 | author name string | Saudubray JM | |
| | Walter JH | |
| | Sedel F | |
| P2860 | cites work | Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3 | Q24533603 |
| | A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency | Q24540570 |
| | Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease | Q33373230 |
| | Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid | Q33614196 |
| | Treatment with amino acids in serine deficiency disorders | Q34536482 |
| | Inherited metabolic diseases and pregnancy | Q36016747 |
| | Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential | Q36501326 |
| | Impact of diets and nutrients/drugs on early epigenetic programming | Q36501334 |
| | Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A. | Q38333419 |
| | L-arginine improves the symptoms of strokelike episodes in MELAS. | Q45280645 |
| | Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I | Q73832037 |
| P433 | issue | 2-3 | |
| P304 | page(s) | 261-274 | |
| P577 | publication date | 2006-04-01 | |
| P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
| P1476 | title | Clinical approach to treatable inborn metabolic diseases: an introduction | |
| P478 | volume | 29 | |