A S Feigenbaum
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Explore the profile of A S Feigenbaum including associated specialties, affiliations and a list of published articles.
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Articles
21
Citations
134
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Recent Articles
1.
Al-Maawali A, Yoon G, Feigenbaum A, Halliday W, Clarke J, Branson H, et al.
Neuroradiology
. 2016 Aug;
58(10):1035-1042.
PMID: 27516098
Introduction: Infantile neuroaxonal dystrophy (INAD), an autosomal recessive neurodegenerative disorder due to PLA2G6 mutation, is classified both as a PLA2G6-associated neurodegeneration (PLAN) disorder and as one of the neurodegeneration with...
2.
Shah V, Friedman S, Moore A, Platt B, Feigenbaum A
Acta Paediatr
. 2001 Sep;
90(8):948-9.
PMID: 11529548
Unlabelled: No universal consensus exists for population-based neonatal screening for galactosemia. In our institution, selective screening for classical galactosemia is carried out on infants under 2 wk of age and...
3.
Brown N, Mullur R, Subramanian I, ESSER V, Bennett M, Saudubray J, et al.
J Lipid Res
. 2001 Jul;
42(7):1134-42.
PMID: 11441142
Carnitine palmitoyltransferase I (CPT I) catalyzes the formation of acylcarnitine, the first step in the oxidation of long-chain fatty acids in mitochondria. The enzyme exists as liver (L-CPT I) and...
4.
Patel M, Callahan J, Zhang S, Chan A, Unger S, Levin A, et al.
Am J Med Genet
. 1999 Jun;
85(1):38-47.
PMID: 10377011
Galactosialidosis (GS) is an autosomal recessive condition caused by combined deficiency of the lysosomal enzymes beta-galactosidase and alpha-neuraminidase. The combined deficiency has been found to result from a defect in...
5.
Gibson K, Feigenbaum A
J Inherit Metab Dis
. 1997 Nov;
20(5):712-3.
PMID: 9323571
No abstract available.
6.
Hanley W, Feigenbaum A, Clarke J, Schoonheyt W, Austin V
Eur J Pediatr
. 1996 Jul;
155 Suppl 1:S145-7.
PMID: 8828632
Following several years absence from clinical follow up, an 18-year-old female on diet therapy for phenylketonuria presented with spastic paraparesis, tremor, disorientation, slurred speech, distractibility, deteriorating mental function and megaloblastic...
7.
Feigenbaum A, Robinson B
Genomics
. 1993 Aug;
17(2):376-81.
PMID: 8406489
The structural organization of the gene for the E3 subunit of the human alpha-ketoacid dehydrogenase complexes, dihydrolipoamide dehydrogenase (DLD), and its upstream elements have been determined by restriction endonuclease mapping...
8.
Feigenbaum A, Natowicz M, Skomorowski M, Schuster S, Clarke J, Mahuran D, et al.
N Engl J Med
. 1990 Jul;
323(1):6-12.
PMID: 2355960
Background And Methods: The prevention of Tay-Sachs disease (GM2 gangliosidosis, type 1) depends on the identification of carriers of the gene for this autosomal recessive disorder. We compared the enzyme-based...
9.
10.
Adams W, Gaman E, Feigenbaum A
Atherosclerosis
. 1972 Nov;
16(3):405-11.
PMID: 4657747
No abstract available.