| Title | Author | Year |
|---|
| Multi-exon deletion in the XDH gene as a cause of classical xanthinuria | Eggermann T, | 2013 |
| Inborn errors of metabolism causing epilepsy | Rahman S, | 2013 |
| Ammonium Accumulation and Cell Death in a Rat 3D Brain Cell Model of Glutaric Aciduria Type I | Jafari P, | 2013 |
| Liver transplantation and cell therapies for inborn errors of metabolism | McKiernan P | 2013 |
| Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature | Wortmann SB, | 2013 |
| Survey of health status and complications among propionic acidemia patients | Pena L, | 2012 |
| Propionic Acidemia | Carrillo-Carrasco N, | 2012 |
| Juvenile glaucoma in propionic acidemia | Rosentreter A, | 2012 |
| Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism | Coelho D, | 2012 |
| Congenital adrenal hyperplasia: a rare cause of renal failure and a successful renal transplantation | Gungor O, | 2012 |
| Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients | Navarro-Sastre A, | 2012 |
| Cerebrotendinous xanthomatosis: a rare disorder with a rare presentation | Agrawal NK, | 2012 |
| Progress in understanding 2-hydroxyglutaric acidurias | Martijn Kranendijk, | 2012 |
| Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology | Molho-Pessach V, | 2012 |
| 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase | Sass JO, | 2012 |
| Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening | Arnold GL, | 2012 |
| The 3-methylglutaconic acidurias: whats new? | Wortmann SB, | 2012 |
| 5-Oxoprolinase deficiency: report of the first human OPLAH mutation. | Almaghlouth IA, | 2012 |
| Neurocognitive phenotype of isolated methylmalonic acidemia | O'Shea CJ, | 2012 |
| Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management | Carrillo-Carrasco N, | 2012 |
| Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes | Carrillo-Carrasco N, | 2012 |
| Role of vitamin B12 on methylmalonyl-CoA mutase activity | Takahashi-Iñiguez T | 2012 |
| [Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria] | Liu YP, | 2012 |
| Recommendations for diagnosis and management of metformin-induced vitamin B12 (Cbl) deficiency | Mazokopakis EE, | 2012 |
| Cobalamin deficiency | Herrmann W, | 2012 |
| Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns | Tanner SM, | 2012 |
| Severe vitamin B12 deficiency in an exclusively breastfed 5-month-old Italian infant born to a mother receiving multivitamin supplementation during pregnancy | Guez S, | 2012 |
| Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism | Stucki M, | 2012 |
| Update and new concepts in vitamin responsive disorders of folate transport and metabolism | Watkins D, | 2012 |
| Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism | Coelho D, | 2012 |
| Methionine synthase deficiency: a rare cause of adult-onset leukoencephalopathy | Outteryck O, | 2012 |
| Leukoencephalopathies associated with disorders of cobalamin and folate metabolism | Wilcken B | 2012 |
| Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience | Mazariegos GV, | 2012 |
| Young Adults with MSUD and Their Transition to Adulthood: Psychosocial Issues | Packman W, | 2012 |
| Analysis of gene mutations in Chinese patients with maple syrup urine disease | Yang N, | 2012 |
| Domino liver transplantation: how far can we push the paradigm? | Popescu I, | 2012 |
| Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia | Di Filippo M, | 2012 |
| Clinical utility gene card for: Abetalipoproteinaemia | Burnett JR, | 2012 |
| Genetics and molecular basis of human peroxisome biogenesis disorders | Waterham HR, | 2012 |
| Zellweger Syndrome and Associated Brain Malformations: Report of a Novel Peroxin1(PEX1) Mutation in a Native American Infant | Mohebbi MR, | 2012 |
| A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population | Levesque S, | 2012 |
| Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants | Sturm M, | 2012 |
| MCAD deficiency in Denmark | Andresen BS, | 2012 |
| [Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management] | Feillet F, | 2012 |
| Acatalasemia and diabetes mellitus | Góth L, | 2012 |
| A simple method for examination of polymorphisms of catalase exon 9: rs769217 in Hungarian microcytic anemia and beta-thalassemia patients | Nagy T, | 2012 |
| Aceruloplasminemia | Kono S | 2012 |
| Acrodermatitis enteropathica | Azemi M, | 2012 |
| Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10) | Horvath R | 2012 |
| A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workup | Francescato G, | 2012 |
| Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. | Meimaridou E, | 2012 |
