Callahan J - Search Results

1

Atypical phenotype in a boy with a maple syrup urine disease.

Ben-Omran TI, Blaser S, Phillips H, Callahan J, Feigenbaum A. Ben-Omran TI, et al. Among authors: callahan j. J Inherit Metab Dis. 2006 Feb;29(1):195-200. doi: 10.1007/s10545-006-0224-0. J Inherit Metab Dis. 2006. PMID: 16601891

2

Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case.

Nowaczyk MJ, Feigenbaum A, Silver MM, Callahan J, Levin A, Jay V. Nowaczyk MJ, et al. Among authors: callahan j. J Inherit Metab Dis. 1996;19(5):655-60. doi: 10.1007/BF01799842. J Inherit Metab Dis. 1996. PMID: 8892023

3

Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up.

Patel MS, Callahan JW, Zhang S, Chan AK, Unger S, Levin AV, Skomorowski MA, Feigenbaum AS, O'Brien K, Hellmann J, Ryan G, Velsher L, Chitayat D. Patel MS, et al. Among authors: callahan jw. Am J Med Genet. 1999 Jul 2;85(1):38-47. Am J Med Genet. 1999. PMID: 10377011

4

A comparative study of cytoplasmic granules imaged by the real-time microscope, Nile Red and Filipin in fibroblasts from patients with lipid storage diseases.

Pham NA, Gal MR, Bagshaw RD, Mohr AJ, Chue B, Richardson T, Callahan JW. Pham NA, et al. Among authors: callahan jw. J Inherit Metab Dis. 2005;28(6):991-1004. doi: 10.1007/s10545-005-0117-7. J Inherit Metab Dis. 2005. PMID: 16435192

5

Genotype-phenotype pitfalls in Gaucher disease.

Strasberg PM, Triggs-Raine BL, Warren IB, Skomorowski MA, McInnes B, Becker LE, Callahan JW, Clarke JT. Strasberg PM, et al. Among authors: callahan jw. J Clin Lab Anal. 1994;8(4):228-36. doi: 10.1002/jcla.1860080409. J Clin Lab Anal. 1994. PMID: 7931818 Review.

6

Diagnosis of Krabbe disease by use of a natural substrate.

Callahan JW, Skomorowski MA. Callahan JW, et al. Methods Mol Biol. 2006;347:321-30. doi: 10.1385/1-59745-167-3:321. Methods Mol Biol. 2006. PMID: 17072020

7

The biochemistry and clinical features of galactosialidosis.

Okamura-Oho Y, Zhang S, Callahan JW. Okamura-Oho Y, et al. Among authors: callahan jw. Biochim Biophys Acta. 1994 Feb 22;1225(3):244-54. doi: 10.1016/0925-4439(94)90002-7. Biochim Biophys Acta. 1994. PMID: 8312369 Review.

8

Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.

Hinek A, Zhang S, Smith AC, Callahan JW. Hinek A, et al. Among authors: callahan jw. Am J Hum Genet. 2000 Jul;67(1):23-36. doi: 10.1086/302968. Epub 2000 Jun 6. Am J Hum Genet. 2000. PMID: 10841810 Free PMC article.

9

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.

McCready ME, Carson NL, Chakraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT. McCready ME, et al. Among authors: callahan jw. Mol Genet Metab. 2007 Dec;92(4):325-35. doi: 10.1016/j.ymgme.2007.07.006. Epub 2007 Aug 27. Mol Genet Metab. 2007. PMID: 17723315

10

Early proteolytic cleavage with loss of a C-terminal fragment underlies altered processing of the beta-galactosidase precursor in galactosialidosis.

Okamura-Oho Y, Zhang S, Hilson W, Hinek A, Callahan JW. Okamura-Oho Y, et al. Among authors: callahan jw. Biochem J. 1996 Feb 1;313 ( Pt 3)(Pt 3):787-94. doi: 10.1042/bj3130787. Biochem J. 1996. PMID: 8611156 Free PMC article.

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