Search Results - "Abdenur, J E"

Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders by Vockley, J., Charrow, J., Ganesh, J., Eswara, M., Diaz, G.A., McCracken, E., Conway, R., Enns, G.M., Starr, J., Wang, R., Abdenur, J.E., Sanchez-de-Toledo, J., Marsden, D.L.

“…Long-chain fatty acid oxidation disorders (LC-FAOD) can cause cardiac hypertrophy and cardiomyopathy, often presenting in infancy, typically leading to death…”
Get full text

Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms by Puckett, R.L., Lorey, F., Rinaldo, P., Lipson, M.H., Matern, D., Sowa, M.E., Levine, S., Chang, R., Wang, R.Y., Abdenur, J.E.

“…Newborn screening (NBS) by tandem mass spectrometry (MS/MS) has allowed for early detection and initiation of treatment in many patients with maple syrup urine…”
Get full text

Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards by Puckett, R.L., Orsini, J.J., Pastores, G.M., Wang, R.Y., Chang, R., Saavedra-Matiz, C.A., Torres, P.A., Zeng, B., Caggana, M., Lorey, F., Abdenur, J.E.

“…To present clinical, biochemical and molecular information on six new clinically diagnosed Krabbe disease patients and assess the sensitivity of retrospective…”
Get full text

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency by Dhar, S.U., Scaglia, F., Li, F.-Y., Smith, L., Barshop, B.A., Eng, C.M., Haas, R.H., Hunter, J.V., Lotze, T., Maranda, B., Willis, M., Abdenur, J.E., Chen, E., O’Brien, W., Wong, L-J.C.

“…Guanidinoacetate methyltransferase (GAMT) deficiency is a disorder of creatine biosynthesis, characterized by excessive amounts of guanidinoacetate in body…”
Get full text

Riboflavin deficiency due to vitamin shortage in neonates with parenteral nutrition dependence by Mares Beltran, C., Boyer, M.A., Denslow, A., Jun, A., Mikhael, M., Abdenur, J.E.

Get full text

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy by Boyer, M., Sowa, M., Di Meo, I., Eftekharian, S., Steenari, M.R., Tiranti, V., Abdenur, J.E.

“…Ethylmalonic encephalopathy (EE) is a devastating neurodegenerative disease caused by mutations in the ETHE1 gene critical for hydrogen sulfide (H2S)…”
Get full text

Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening by Leydiker, K.B., Neidich, J.A., Lorey, F., Barr, E.M., Puckett, R.L., Lobo, R.M., Abdenur, J.E.

“…Prior to the advent of expanded newborn screening, sudden and unexplained death was often the first and only symptom of medium-chain acyl-CoA dehydrogenase…”
Get full text

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency by Brun, L, Ngu, L H, Keng, W T, Ch'ng, G S, Choy, Y S, Hwu, W L, Lee, W T, Willemsen, M A A P, Verbeek, M M, Wassenberg, T, Régal, L, Orcesi, S, Tonduti, D, Accorsi, P, Testard, H, Abdenur, J E, Tay, S, Allen, G F, Heales, S, Kern, I, Kato, M, Burlina, A, Manegold, C, Hoffmann, G F, Blau, N

“…To describe the current treatment; clinical, biochemical, and molecular findings; and clinical follow-up of patients with aromatic l-amino acid decarboxylase…”
Get full text

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California by Gallant, N.M., Leydiker, K., Wilnai, Y., Lee, C., Lorey, F., Feuchtbaum, L., Tang, H., Carter, J., Enns, G.M., Packman, S., Lin, H.J., Wilcox, W.R., Cederbaum, S.D., Abdenur, J.E.

“…Carnitine transporter defect (CTD; also known as systemic primary carnitine deficiency; MIM 212140) is due to mutations in the SLC22A5 gene and leads to…”
Get full text

Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet by Abdenur, J.E., Sowa, M., Simon, M., Steenari, M., Skaar, J., Eftekharian, S., Chang, R., Ferdinandusse, S., Pitt, J.

Get full text

Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme by Abdenur, J. E., Chamoles, N. A., Guinle, A. E., Schenone, A. B., Fuertes, A. N. J.

“…Tandem mass spectrometric analysis of acylcarnitines and amino acids has been applied in newborn screening programmes for the detection of several inborn…”
Get full text

Pearson syndrome: Unique endocrine manifestations including Neonatal Diabetes and adrenal insufficiency by Williams, T.B., Daniels, M., Puthenveetil, G., Chang, R., Wang, R.Y., Abdenur, J.E.

“…Pearson syndrome is a very rare metabolic disorder that is usually present in infancy with transfusion dependent macrocytic anemia and multiorgan involvement…”
Get full text

Multiple acyl-coa-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment by ABDENUR, José E, CHAMOLES, Néstor A, SCHENONE, Andrea B, JORGE, L. I. A, GUINLE, Adolfo, BERNARD, Cristina, LEVANDOVSKIY, Valeriy, FUSTA, Marta, LAVORGNA, Silvana

“…The treatment of multiple acyl-CoA-dehydrogenase deficiency (MADD) includes a low-fat, low-protein, high-carbohydrate diet, avoiding long fasting periods…”
Get full text

Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease by Sremba, L J, Chang, R C, Elbalalesy, N M, Cambray-Forker, E J, Abdenur, J E

“…Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare metabolic condition caused by mutations in the gene. BTBGD presents with encephalopathy and…”
Get full text

Response to nutritional and growth hormone treatment in progeria by Abdenur, Jose E., Brown, W.Ted, Friedman, Silvia, Smith, Melanie, Lifshitz, Fima

“…Hutchinson-Gilford progeria syndrome (HGPS) is a rare condition with an unknown molecular defect. Patients with HGP progressively develop failure to thrive…”
Get full text

Body composition and spontaneous growth hormone secretion in normal short stature children by Abdenur, J E, Solans, C V, Smith, M M, Carman, C, Pugliese, M T, Lifshitz, F

“…This study was designed to compare the relationship of measured and estimated indices of adiposity with the spontaneous GH secretion (SGHS) in 37 normal short…”
Get more information

Alterations in spontaneous growth hormone (GH) secretion and the response to GH-releasing hormone in children with nonorganic nutritional dwarfing by Abdenur, J E, Pugliese, M T, Cervantes, C, Fort, P, Lifshitz, F

“…The effects of suboptimal nutrition on the spontaneous overnight GH secretion (SGHS) and the GH response to GHRH were studied. Sixteen patients with nonorganic…”
Get more information

Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy by Bannwarth, S, Procaccio, V, Rouzier, C, Fragaki, K, Poole, J, Chabrol, B, Desnuelle, C, Pouget, J, Azulay, J P, Attarian, S, Pellissier, J F, Gargus, J J, Abdenur, J E, Mozaffar, T, Calvas, P, Labauge, P, Pages, M, Wallace, D C, Lambert, J C, Paquis-Flucklinger, V

“…Mutations of mitochondrial genome are responsible for respiratory chain defects in numerous patients. We have used a strategy, based on the use of a…”
Get full text

MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE Ia by QU, YONG, ABDENUR, JOSE E., ENG, CHRISTINE M., DESNICK, ROBERT J.

“…Glycogen storage disease type Ia (GSD Ia, von Gierke disease) is an autosomal recessive inborn error of metabolism caused by the deficiency of…”
Get full text

Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus by Abad, Maria Mylene, Cotter, Philip D., Fodor, Flora H., Larson, Signe, Ginsberg-Fellner, Fredda, Desnick, Robert J., Abdenur, Jose E.

“…Since recent studies demonstrated the occurrence of the mitochondrial DNA (mtDNA) mutation A3243G in patients with adult-onset diabetes, an investigation was…”
Get full text