DiFerrante NM - Search Results

1

Variation in the phenotypic expression of beta-glucuronidase deficiency.

Beaudet AL, DiFerrante NM, Ferry GD, Nichols BL Jr, Mullins CE. Beaudet AL, et al. Among authors: diferrante nm. J Pediatr. 1975 Mar;86(3):388-94. doi: 10.1016/s0022-3476(75)80968-1. J Pediatr. 1975. PMID: 803560

2

Mucopolysaccharide-storage diseases: corrective activity of normal human serum and lymphocyte extracts.

Di Ferrante N, Nichols BL, Knudson AG, McCredie KB, Singh J, Donnelly PV. Di Ferrante N, et al. Birth Defects Orig Artic Ser. 1973 Mar;9(2):31-40. Birth Defects Orig Artic Ser. 1973. PMID: 4215477 Review. No abstract available.

3

Sanfilippo disease: differentiation of types A and B by an analytical method.

Singh J, Donnelly PV, Di Ferrante N, Nichols BL, Niebes P. Singh J, et al. J Lab Clin Med. 1974 Sep;84(3):438-50. J Lab Clin Med. 1974. PMID: 4277641 No abstract available.

4

Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndromes by plasma infusion.

Di Ferrante N, Nichols BL, Donnelly PV, Neri G, Hrgovcic R, Berglund RK. Di Ferrante N, et al. Proc Natl Acad Sci U S A. 1971 Feb;68(2):303-7. doi: 10.1073/pnas.68.2.303. Proc Natl Acad Sci U S A. 1971. PMID: 5277074 Free PMC article.

5

Mucopolysaccharidosis VI (Maroteaux-Lamy disease). Clinical and biochemical study of a mild variant case.

Di Ferrante N, Hyman BH, Klish W, Donnelly PV, Nichols BL, Dutton RV. Di Ferrante N, et al. Johns Hopkins Med J. 1974 Jul;135(1):42-54. Johns Hopkins Med J. 1974. PMID: 4276101 No abstract available.

6

A case of the Hunter syndrome with progeny.

DiFerrante N, Nichols BL. DiFerrante N, et al. Johns Hopkins Med J. 1972 May;130(5):325-8. Johns Hopkins Med J. 1972. PMID: 4622960 No abstract available.

7

Collagen breakdown and ammonia inhalation.

Hatton DV, Leach CS, Beaudet AL, Dillman RO, Di Ferrante N. Hatton DV, et al. Arch Environ Health. 1979 Mar-Apr;34(2):83-7. doi: 10.1080/00039896.1979.10667373. Arch Environ Health. 1979. PMID: 434936

8

Reliability of the Booth-Nadler technique for the detection of Hunter heterozygotes.

Donnelly PV, Di Ferrante N. Donnelly PV, et al. Pediatrics. 1975 Sep;56(3):429-33. Pediatrics. 1975. PMID: 808791

9

Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII.

Haskins ME, Desnick RJ, DiFerrante N, Jezyk PF, Patterson DF. Haskins ME, et al. Pediatr Res. 1984 Oct;18(10):980-4. doi: 10.1203/00006450-198410000-00014. Pediatr Res. 1984. PMID: 6436780

10

Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V.

Di Ferrante N, Leachman RD, Angelini P, Donnelly PV, Francis G, Almazan A. Di Ferrante N, et al. Connect Tissue Res. 1975;3(1):49-53. doi: 10.3109/03008207509152341. Connect Tissue Res. 1975. PMID: 240645

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