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Search Results - Abdenur, JE
Search Results - Abdenur, JE
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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.
Published in
Molecular genetics and metabolism
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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.
Published in
Molecular genetics and metabolism
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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.
Published in
Molecular genetics and metabolism
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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.
Published in
Molecular genetics and metabolism
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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.
Published in
Molecular genetics and metabolism
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Aromatic l-aminoacid decarboxylase deficiency: Unusual neonatal presentation and additional findings in organic acid analysis
by
Abdenur, Jose E.
,
Abeling, Nico
,
Specola, Norma
,
Jorge, Lia
,
Schenone, Andrea B.
,
van Cruchten, Arno C.
,
Chamoles, Nestor A.
Published in
Molecular genetics and metabolism
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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.
Published in
Journal of inherited metabolic disease
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Response to nutritional and growth hormone treatment in progeria
by
Abdenur, Jose E.
,
Brown, W.Ted
,
Friedman, Silvia
,
Smith, Melanie
,
Lifshitz, Fima
Published in
Metabolism, clinical and experimental
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Structural ( beta alpha ) sub(8) TIM Barrel Model of 3-Hydroxy-3- methylglutaryl-Coenzyme A Lyase
by
Casals, N
,
Gomez-Puertas, P
,
Pie, J
,
Mir, C
,
Roca, R
,
Puisac, B
,
Aledo, R
,
Clotet, J
,
Menao, S
,
Serra, D
,
Asins, G
,
Till, J
,
Elias-Jones, A C
,
Cresto, J C
,
Chamoles, NA
,
Abdenur, JE
,
Mayatepek, E
,
Besley, G
,
Valencia, A
,
Hegardt, F G
Published in
The Journal of biological chemistry
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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.
Published in
Metabolism, clinical and experimental
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Isolation of liver cells by perchlorate-citrate perfusion
by
D'Alessandro, V
,
Camberos, M C
,
Giulive, C
,
Abdenur, J E
,
Basabe, J C
,
Cresto, J C
Published in
In Vitro Cellular & Developmental Biology
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La favela d'un siècle à l'autre
by
Valladares, Licia
,
Abdenur, Adriana
Published in
The American journal of sociology
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