Search Results - "Lund, Am"

Effect of Enteral Lipid Supplement on Severe Retinopathy of Prematurity: A Randomized Clinical Trial by Hellström, Ann, Nilsson, Anders K, Wackernagel, Dirk, Pivodic, Aldina, Vanpee, Mireille, Sjöbom, Ulrika, Hellgren, Gunnel, Hallberg, Boubou, Domellöf, Magnus, Klevebro, Susanna, Hellström, William, Andersson, Mats, Lund, Anna-My, Löfqvist, Chatarina, Elfvin, Anders, Sävman, Karin, Hansen-Pupp, Ingrid, Hård, Anna-Lena, Smith, Lois E H, Ley, David

“…Lack of arachidonic acid (AA) and docosahexaenoic acid (DHA) after extremely preterm birth may contribute to preterm morbidity, including retinopathy of…”
Get more information

Modification of serum fatty acids in preterm infants by parenteral lipids and enteral docosahexaenoic acid/arachidonic acid: A secondary analysis of the Mega Donna Mega trial by Sjöbom, Ulrika, Andersson, Mats X., Pivodic, Aldina, Lund, Anna-My, Vanpee, Mireille, Hansen-Pupp, Ingrid, Ley, David, Wackernagel, Dirk, Sävman, Karin, Smith, Lois E.H., Löfqvist, Chatarina, Hellström, Ann, Nilsson, Anders K.

“…Preterm infants risk deficits of long-chain polyunsaturated fatty acids (LCPUFAs) that may contribute to morbidities and hamper neurodevelopment. We aimed to…”
Get full text

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy by Wraith, J. Edmond, Scarpa, Maurizio, Beck, Michael, Bodamer, Olaf A., De Meirleir, Linda, Guffon, Nathalie, Meldgaard Lund, Allan, Malm, Gunilla, Van der Ploeg, Ans T., Zeman, Jiri

“…Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal enzyme…”
Get full text

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease by Scarpa, Maurizio, Almássy, Zsuzsanna, Beck, Michael, Bodamer, Olaf, Bruce, Iain A, De Meirleir, Linda, Guffon, Nathalie, Guillén-Navarro, Encarna, Hensman, Pauline, Jones, Simon, Kamin, Wolfgang, Kampmann, Christoph, Lampe, Christina, Lavery, Christine A, Teles, Elisa Leão, Link, Bianca, Lund, Allan M, Malm, Gunilla, Pitz, Susanne, Rothera, Michael, Stewart, Catherine, Tylki-Szymańska, Anna, van der Ploeg, Ans, Walker, Robert, Zeman, Jiri, Wraith, James E

“…Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme…”
Get full text

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence by Malm, Gunilla, Lund, Allan M., Månsson, Jan-Eric, Heiberg, Arvid

“…Aim: The aim of this study was to estimate the incidence and prevalence of mucopolysaccharidoses (MPS disorders) in Scandinavia. Methods: The retrospective…”
Get full text

Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function by Borgwardt, L., Danielsen, E.R., Thomsen, C., Månsson, J.E., Taouatas, N., Thuesen, A.M., Olsen, K.J., Fogh, J., Dali, C.I., Lund, A.M.

“…Alpha‐mannosidosis (AM) (OMIM 248500) is a rare lysosomal storage disease. The understanding of the central nervous system (CNS) pathology is limited. This…”
Get full text

A novel arginine-to-cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype by Lund, AM, Joensen, F, Christensen, E, Dunø, M, Skovby, F, Schwartz, M

Get full text

Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression? by Klaus, V, Vermeulen, T, Minassian, B, Israelian, N, Engel, K, Lund, AM, Roebrock, K, Christensen, E, Häberle, J

“…Deficiency of the urea cycle enzyme carbamylphosphate synthetase 1 (CPS1) causes hyperammonemia with a vast range of clinical severity from neonatal onset with…”
Get full text

On the neurotoxicity of glutaric, 3-hydroxyglutaric, and trans-glutaconic acids in glutaric acidemia type 1 by Lund, T.M., Christensen, E., Kristensen, A.S., Schousboe, A., Lund, A.M.

“…Glutaric acidemia type 1 (GA1) is an autosomal recessively inherited deficiency of glutaryl‐CoA dehydrogenase. Accumulating metabolites, 3‐hydroxyglutaric…”
Get full text

Anthropometry of patients with osteogenesis imperfecta by Lund, Allan M, Müller, Jørn, Skovby, Flemming

“…Standing height, sitting height, armspan, subischial leg length, head circumference, and growth hormone–insulin-like growth factor I (IGF-I) axis were…”
Get full text

Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36 by EIBERG, H, LUND, A. M, WARBURG, M, ROSENBERG, T

“…Congenital cataract, type Volkmann (McKusick no 115665, gene symbol CCV) is an autosomal dominant eye disease. The disease is characterized by a progressive,…”
Get full text

A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype by Lund, Am, Joensen, F, Christensen, E, Dunø, M, Skovby, F, Schwartz, M

Get full text

Collagen-derived markers of bone metabolism in osteogenesis imperfecta by Lund, AM, Hansen, M, Kollerup, G, Juul, A, Teisner, B, Skovby, F

“…Markers of bone formation [C‐terminal and N‐terminal propeptides of procollagen I (PICP, PINP), osteocalcin and alkaline phosphatase] and bone resorption…”
Get full text

Osteogenesis imperfecta and malignant hyperthermia. Is there a relationship? by Porsborg, P, Astrup, G, Bendixen, D, Lund, A M, Ording, H

“…We describe a patient with osteogenesis imperfecta who developed tachycardia, metabolic and respiratory acidosis (pH 7.14, PCO2 8.4 kPa, BE -8.5 mmol.l-1) and…”
Get more information

Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by Lund, A M, Leonard, J V

“…Feeding difficulties are common in long chain 3-hydroxyacyl-CoA dehydrogenase deficiency in early childhood and are not associated with developmental…”
Get full text

Plasma and erythrocyte fatty acid concentrations in long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency by Lund, A. M., Dixon, M. A., Vreken, P., Leonard, J. V., Morris, A. A. M.

“…Plasma and erythrocyte fatty acids have been measured in 9 patients with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency being treated with a low‐fat…”
Get full text

Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV by Lund, AM, Nicholls, AC, Schwartz, M, Skovby, F

“…Protein‐chemical and molecular studies were conducted on all osteogenesis imperfecta (OI) type III/IV patients referred to our hospital during the last 15 y…”
Get full text

What is the role of medium‐chain triglycerides in the management of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency? by Lund, A. M., Dixon, M. A., Vreken, P., Leonard, J. V., Morris, A. A. M.

“…Cardiomyopathy is common in infants with long‐chain 3‐hydroxy‐acyl‐CoA dehydrogenase deficiency. Resolution of the cardiomyopathy can often be achieved by…”
Get full text

Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online by Lund, AM, Aström, E, Söderhäll, S, Schwartz, M, Skovby, F

Get full text

Bone mineral content and collagen defects in osteogenesis imperfecta by Lund, AM, Mølgaard, C, Müller, J, Skovby, F

“…Whole‐body and spine dual‐energy X‐ray absorptiometry was done in 63 patients with osteogenesis imperfecta aged 5 to 63 y, and the results were compared with…”
Get full text