| Title | Author | Year |
|---|
| Inborn Errors of Energy Metabolism Associated with Myopathies | Das AM, | 2010 |
| Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy | Viscomi C, | 2010 |
| Chronic Exposure to Sulfide causes Accelerated Degradation of Cytochrome c oxidase in Ethylmalonic Encephalopathy | Di Meo I, | 2010 |
| Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches | Drousiotou A, | 2010 |
| Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism | Miousse IR, | 2009 |
| Misleading behavioural phenotype with adenylosuccinate lyase deficiency | Gitiaux C, | 2009 |
| Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat | Berginer VM, | 2009 |
| L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair | Van Schaftingen E, | 2009 |
| L-2-Hydroxyglutaric aciduria presenting with severe autistic features | Zafeiriou DI, | 2009 |
| Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients | Wickenhagen WV, | 2009 |
| Peripheral neuropathy in a patient with D: -2-hydroxyglutaric aciduria | Haliloglu G, | 2009 |
| Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis | García-Villoria J, | 2009 |
| 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult | Reimão S, | 2009 |
| Long-term outcome in methylmalonic aciduria: A series of 30 French patients | Cosson MA, | 2009 |
| Glutaric aciduria type 1 presenting with epilepsy | McClelland VM, | 2009 |
| Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type | De Bie I, | 2009 |
| Role of the colon in short bowel syndrome and intestinal transplantation | Goulet O | 2009 |
| D-Laktatazidose - Rechts-Links-Schwaeche in der Labornalytik | Schmidts M, | 2009 |
| Clinical Heterogeneity in Ethylmalonic Encephalopathy | Pigeon N, | 2009 |
| Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia | di Patti MC | 2009 |
| Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants | Ariyananda Lde Z | 2009 |
| Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method | Hubbard WC | 2009 |
| Leukoencephalopathy in adults: Is it adrenoleukodystrophy? A case report and molecular analysis | Dohle CI | 2009 |
| Reyess syndrome, encephalopathy, hyperammonemia and acetyl salicylic acid ingestion in a city hospital of Buenos Aires, Argentina | Lemberg A | 2009 |
| Reyes and Reyes-like syndromes | Pugliese A | 2009 |
| Dysmorphology of Barth syndrome | Hastings R | 2009 |
| The enigmatic role of tafazzin in cardiolipin metabolism | Houtkooper RH | 2009 |
| Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy | Wortmann SB | 2009 |
| Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics | Tabatabaie L | 2009 |
| [Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein gene] | Sueda Y | 2009 |
| Osteoarthritis? Ochronotic arthritis! A case study and review of the literature | Zhao BH | 2009 |
| [Ochronosis--a rare cause of secondary gonarthrosis] | Baier C | 2009 |
| Acute anterior uveitis as the initial presentation of alkaptonuria | John SS | 2009 |
| De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome | Chan SS | 2009 |
| Ketogenic diet in Alpers-Huttenlocher syndrome | Joshi CN | 2009 |
| Leigh syndrome: clinical and neuroimaging follow-up | Lee HF | 2009 |
| Children with infantile neuronal ceroid lipofuscinosis have an increased risk of hypothermia and bradycardia during anesthesia | Miao N | 2009 |
| A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course | Aberg L | 2009 |
| Nonketotic hyperglycinemia and acquired hydrocephalus | Yis U | 2009 |
| The hunters hope Krabbe family database | Duffner KP | 2009 |
| Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment | Sakai N | 2009 |
| Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis | Scheuerman O | 2009 |
| Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men | Pearl PL | 2009 |
| Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency | Pearl PL | 2009 |
| Abnormal glucose metabolism in aromatic l-amino acid decarboxylase deficiency | Ide S | 2009 |
| A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency | Allen GF | 2009 |
| Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up | Manegold C | 2009 |
| Abnormal tricarboxylic acid cycle metabolites in isovaleric acidaemia | Loots DT | 2009 |
| Glycine N-methyltransferase and regulation of S-adenosylmethionine levels | Luka Z | 2009 |
| Inherited disorders in the conversion of methionine to homocysteine | Baric I | 2009 |
| Treatment of Alport syndrome: beyond animal models | Gross O | 2009 |
