about
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiencyAlpha-mannosidosis - a review of genetic, clinical findings and options of treatmentAn overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.Adherence issues in inherited metabolic disorders treated by low natural protein diets.Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-MannosidosisBrain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophy.X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function.Osteogenesis imperfecta: clinical, cephalometric, and biochemical investigations of OI types I, III, and IV.Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis.Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype Correlation.Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing.Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency?Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II.Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?MCAD deficiency in Denmark.[Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)].[Splenomegaly and failure to thrive as a result of Gaucher disease].Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS.Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1.The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
P50
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P50
description
researcher ORCID ID = 0000-0002-6091-7879
@en
wetenschapper
@nl
name
Allan M Lund
@ast
Allan M Lund
@en
Allan M Lund
@nl
type
label
Allan M Lund
@ast
Allan M Lund
@en
Allan M Lund
@nl
prefLabel
Allan M Lund
@ast
Allan M Lund
@en
Allan M Lund
@nl
P31
P496
0000-0002-6091-7879