Results
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121.
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Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. [electronic resource] by
- de Kremer, Raquel Dodelson
- Latini, Alexandra
- Suormala, Terttu
- Baumgartner, E Regula
- Laróvere, Laura
- Civallero, Gabriel
- Guelbert, Norberto
- Paschini-Capra, Ana
- Depetris-Boldini, Catalina
- Mayor, Carlos Quiroga
Producer: 20020828
In:
Metabolic brain disease vol. 17
Availability: No items available.
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122.
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Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. [electronic resource] by
- Baumgartner, Matthias R
- Dantas, M Fernanda
- Suormala, Terttu
- Almashanu, Shlomo
- Giunta, Cecilia
- Friebel, Dolores
- Gebhardt, Boris
- Fowler, Brian
- Hoffmann, Georg F
- Baumgartner, E Regula
- Valle, David
Producer: 20050103
In:
American journal of human genetics vol. 75
Availability: No items available.
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123.
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Delayed-onset profound biotinidase deficiency. [electronic resource] by
- Wolf, B
- Pomponio, R J
- Norrgard, K J
- Lott, I T
- Baumgartner, E R
- Suormala, T
- Ramaekers, V T
- Coskun, T
- Tokatli, A
- Ozalp, I
- Hymes, J
Producer: 19980401
In:
The Journal of pediatrics vol. 132
Availability: No items available.
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124.
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Indoor exposure to particulate matter and the incidence of acute lower respiratory infections among children: a birth cohort study in urban Bangladesh. [electronic resource] by
- Gurley, E S
- Homaira, N
- Salje, H
- Ram, P K
- Haque, R
- Petri, W
- Bresee, J
- Moss, W J
- Breysse, P
- Luby, S P
- Azziz-Baumgartner, E
Producer: 20140318
In:
Indoor air vol. 23
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125.
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126.
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Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy. [electronic resource] by
- Van Hove, Johan L K
- Van Damme-Lombaerts, Rita
- Grünewald, Stephanie
- Peters, Heidi
- Van Damme, Boudewijn
- Fryns, Jean-Pierre
- Arnout, Jozef
- Wevers, Ron
- Baumgartner, E Regula
- Fowler, Brian
Producer: 20030131
In:
American journal of medical genetics vol. 111
Availability: No items available.
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127.
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Raising Backyard Poultry in Rural Bangladesh: Financial and Nutritional Benefits, but Persistent Risky Practices. [electronic resource] by
- Shanta, I S
- Hasnat, Md A
- Zeidner, N
- Gurley, E S
- Azziz-Baumgartner, E
- Sharker, M A Y
- Hossain, K
- Khan, S U
- Haider, N
- Bhuyan, A A
- Hossain, Md A
- Luby, S P
Producer: 20180301
In:
Transboundary and emerging diseases vol. 64
Availability: No items available.
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128.
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Seventeen novel mutations that cause profound biotinidase deficiency. [electronic resource] by
- Wolf, B
- Jensen, K
- Hüner, G
- Demirkol, M
- Baykal, T
- Divry, P
- Rolland, M-O
- Perez-Cerdá, C
- Ugarte, M
- Straussberg, R
- Basel-Vanagaite, L
- Baumgartner, E R
- Suormala, T
- Scholl, S
- Das, A M
- Schweitzer, S
- Pronicka, E
- Sykut-Cegielska, J
Producer: 20030527
In:
Molecular genetics and metabolism vol. 77
Availability: No items available.
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129.
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Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. [electronic resource] by
- Andresen, B S
- Olpin, S
- Poorthuis, B J
- Scholte, H R
- Vianey-Saban, C
- Wanders, R
- Ijlst, L
- Morris, A
- Pourfarzam, M
- Bartlett, K
- Baumgartner, E R
- deKlerk, J B
- Schroeder, L D
- Corydon, T J
- Lund, H
- Winter, V
- Bross, P
- Bolund, L
- Gregersen, N
Producer: 19990413
In:
American journal of human genetics vol. 64
Availability: No items available.
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130.
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Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. [electronic resource] by
- Kennedy, Hannah
- Haack, Tobias B
- Hartill, Verity
- Mataković, Lavinija
- Baumgartner, E Regula
- Potter, Howard
- Mackay, Richard
- Alston, Charlotte L
- O'Sullivan, Siobhan
- McFarland, Robert
- Connolly, Grainne
- Gannon, Caroline
- King, Richard
- Mead, Scott
- Crozier, Ian
- Chan, Wandy
- Florkowski, Chris M
- Sage, Martin
- Höfken, Thomas
- Alhaddad, Bader
- Kremer, Laura S
- Kopajtich, Robert
- Feichtinger, René G
- Sperl, Wolfgang
- Rodenburg, Richard J
- Minet, Jean Claude
- Dobbie, Angus
- Strom, Tim M
- Meitinger, Thomas
- George, Peter M
- Johnson, Colin A
- Taylor, Robert W
- Prokisch, Holger
- Doudney, Kit
- Mayr, Johannes A
Producer: 20170502
In:
American journal of human genetics vol. 99
Availability: No items available.
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