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Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. [electronic resource] by
- Koeberl, D D
- Millington, D S
- Smith, W E
- Weavil, S D
- Muenzer, J
- McCandless, S E
- Kishnani, P S
- McDonald, M T
- Chaing, S
- Boney, A
- Moore, E
- Frazier, D M
Producer: 20040223
In:
Journal of inherited metabolic disease vol. 26
Availability: No items available.
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Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. [electronic resource] by
- Andresen, B S
- Dobrowolski, S F
- O'Reilly, L
- Muenzer, J
- McCandless, S E
- Frazier, D M
- Udvari, S
- Bross, P
- Knudsen, I
- Banas, R
- Chace, D H
- Engel, P
- Naylor, E W
- Gregersen, N
Producer: 20010705
In:
American journal of human genetics vol. 68
Availability: No items available.
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