Burlina AB - Search Results

1

Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

Dionisi Vici C, Burlina AB, Bertini E, Bachmann C, Mazziotta MR, Zacchello F, Sabetta G, Hale DE. Dionisi Vici C, et al. Among authors: burlina ab. J Pediatr. 1991 May;118(5):744-6. doi: 10.1016/s0022-3476(05)80039-3. J Pediatr. 1991. PMID: 2019931 No abstract available.

2

Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders.

Burlina AB, Bachmann C, Wermuth B, Bordugo A, Ferrari V, Colombo JP, Zacchello F. Burlina AB, et al. J Inherit Metab Dis. 1992;15(3):395-8. doi: 10.1007/BF02435986. J Inherit Metab Dis. 1992. PMID: 1405478 No abstract available.

3

Allopurinol challenge test in children.

Burlina AB, Ferrari V, Dionisi-Vici C, Bordugo A, Zacchello F, Tuchman M. Burlina AB, et al. J Inherit Metab Dis. 1992;15(5):707-12. doi: 10.1007/BF01800010. J Inherit Metab Dis. 1992. PMID: 1434508

4

Fatal infantile liver failure associated with mitochondrial DNA depletion.

Mazziotta MR, Ricci E, Bertini E, Dionisi Vici C, Servidei S, Burlina AB, Sabetta G, Bartuli A, Manfredi G, Silvestri G, et al. Mazziotta MR, et al. Among authors: burlina ab. J Pediatr. 1992 Dec;121(6):896-901. doi: 10.1016/s0022-3476(05)80335-x. J Pediatr. 1992. PMID: 1447652 Free article.

5

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.

Bertini E, Dionisi-Vici C, Garavaglia B, Burlina AB, Sabatelli M, Rimoldi M, Bartuli A, Sabetta G, DiDonato S. Bertini E, et al. Among authors: burlina ab. Eur J Pediatr. 1992 Feb;151(2):121-6. doi: 10.1007/BF01958956. Eur J Pediatr. 1992. PMID: 1537353

6

Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency.

Burlina AB, Poletto M, Shin YS, Zacchello F. Burlina AB, et al. J Inherit Metab Dis. 1990;13(3):263-6. doi: 10.1007/BF01799368. J Inherit Metab Dis. 1990. PMID: 2122081 No abstract available.

7

Partial biotinidase deficiency associated with Coffin-Siris syndrome.

Burlina AB, Sherwood WG, Zacchello F. Burlina AB, et al. Eur J Pediatr. 1990 Jun;149(9):628-9. doi: 10.1007/BF02034749. Eur J Pediatr. 1990. PMID: 2373113

8

Acute pancreatitis in propionic acidaemia.

Burlina AB, Dionisi-Vici C, Piovan S, Saponara I, Bartuli A, Sabetta G, Zacchello F. Burlina AB, et al. J Inherit Metab Dis. 1995;18(2):169-72. doi: 10.1007/BF00711758. J Inherit Metab Dis. 1995. PMID: 7564238 No abstract available.

9

A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program.

Blau N, Ichinose H, Nagatsu T, Heizmann CW, Zacchello F, Burlina AB. Blau N, et al. Among authors: burlina ab. J Pediatr. 1995 Mar;126(3):401-5. doi: 10.1016/s0022-3476(95)70458-2. J Pediatr. 1995. PMID: 7869202

10

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.

Burlina AB, Dionisi-Vici C, Bennett MJ, Gibson KM, Servidei S, Bertini E, Hale DE, Schmidt-Sommerfeld E, Sabetta G, Zacchello F, et al. Burlina AB, et al. J Pediatr. 1994 Jan;124(1):79-86. doi: 10.1016/s0022-3476(94)70257-8. J Pediatr. 1994. PMID: 8283379

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