A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosisMIGNARRI, Andrea; GALLUS, Gian Nicola; DOTTI, Maria Teresa et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 3, pp 421-429, issn 0141-8955, 9 p.Article

C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoAMARLAIRE, Simon; VAN SCHAFTINGEN, Emile; VEIGA-DA-CUNHA, Maria et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 1, pp 13-19, issn 0141-8955, 7 p.Article

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndromeSPARKS, S. E; WASSIF, C. A; GOODWIN, H et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 3, pp 415-420, issn 0141-8955, 6 p.Article

Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort studyANDERSON, L. J; HENLEY, W; WYATT, K. M et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 6, pp 945-952, issn 0141-8955, 8 p.Article

Evaluation of an imaging biomarker, Dixon quantitative chemical shift imaging, in Gaucher disease: lessons learnedVAN DUSSEN, L; AKKERMAN, E. M; HOLLAK, C. E. M et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 6, pp 1003-1011, issn 0141-8955, 9 p.Article

Increased aortic stiffness and blood pressure in non-classic Pompe diseaseWENS, Stephan C. A; KUPERUS, Esther; MATTACE-RASO, Francesco U. S et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 3, pp 391-397, issn 0141-8955, 7 p.Article

Long term differential consequences of miglustat therapy on intestinal disaccharidasesAMIRI, Mahdi; NAIM, Hassan Y.Journal of inherited metabolic disease. 2014, Vol 37, Num 6, pp 929-937, issn 0141-8955, 9 p.Article

Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemiaVAN DE VEN, Steffi; GARDEITCHIK, Thatjana; KOUWENBERG, Dorus et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 3, pp 383-390, issn 0141-8955, 8 p.Article

Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseasesMOORTHIE, Sowmiya; CAMERON, Louise; SAGOO, Gurdeep S et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 6, pp 889-898, issn 0141-8955, 10 p.Article

50 years of Newborn ScreeningHOFFMANN, Georg F; LINDNER, Martin; LOEBER, Gerard et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 2, issn 0141-8955, 158 p.Serial Issue

Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screeningRASMUSSEN, Jan; KØBER, Lars; LUND, Allan M et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 2, pp 223-230, issn 0141-8955, 8 p.Article

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VIHARMATZ, Paul R; GARCIA, Paula; GUFFON, Nathalie et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 2, pp 277-287, issn 0141-8955, 11 p.Article

Lysosomal diseases: diagnostic updateWINCHESTER, Bryan.Journal of inherited metabolic disease. 2014, Vol 37, Num 4, pp 599-608, issn 0141-8955, 10 p.Conference Paper

Disappearance of congenital noncompaction in hereditary cobalamin-C-deficiency 2.5 years after birthFINSTERER, Josef; STÖLLBERGER, Claudia.Journal of inherited metabolic disease. 2013, Vol 36, Num 6, pp 1085-1086, issn 0141-8955, 2 p.Article

Chronic administration of branched-chain amino acids impairs spatial memory and increases brain-derived neurotrophic factor in a rat modelSCAINI, Giselli; COMIM, Clarissa M; STRECK, Emilio L et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 5, pp 721-730, issn 0141-8955, 10 p.Article

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patientsBARUTEAU, Julien; SACHS, Philippe; BROUE, Pierre et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 5, pp 795-803, issn 0141-8955, 9 p.Article

Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemiaRYAN, Emily L; LYNCH, Mary Ellen; TADDEO, Elles et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 6, pp 1049-1061, issn 0141-8955, 13 p.Article

Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose studyBORGWARDT, L; DALI, C. I; NILSSEN, O et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 6, pp 1015-1024, issn 0141-8955, 10 p.Article

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemiaGALLEGO-VILLAR, Lorena; PEREZ-CERDA, Celia; PEREZ, Belén et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 5, pp 731-740, issn 0141-8955, 10 p.Article

Unknown pathomechanisms of renal impairment in PKUHENNERMANN, Julia B; QUERFELD, Uwe.Journal of inherited metabolic disease. 2013, Vol 36, Num 6, pp 1089-1090, issn 0141-8955, 2 p.Article

Normal rates of whole-body fat oxidation and gluconeogenesis after overnight fasting and moderate-intensity exercise in patients with medium-chain acyl-CoA dehydrogenase deficiencyHUIDEKOPER, Hidde H; ACKERMANS, Mariëtte T; KOOPMAN, René et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 5, pp 831-840, issn 0141-8955, 10 p.Article

Relationship between enzyme properties and disease progression in Canavan diseaseZANO, Stephen; WIJAYASINGHE, Yasanandana S; MALIK, Radhika et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 1, pp 1-6, issn 0141-8955, 6 p.Article

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDGTHOMPSON, Dorothy A; LYONS, Ruth J; RUSSELL-EGGITT, Isabelle et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 6, pp 1039-1047, issn 0141-8955, 9 p.Article

Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatmentSEKI, Yoshitaka; MIZUOCHI, Tatsuki; TAKEI, Hajime et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 3, pp 565-573, issn 0141-8955, 9 p.Article

The neuropsychiatry of inborn errors of metabolismWALTERFANG, Mark; BONNOT, Olivier; MOCELLIN, Ramon et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 4, pp 687-702, issn 0141-8955, 16 p.Conference Paper