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Results: 1 to 20 of 44

1.

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

Ashton-Prolla P, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ.

J Investig Med. 2000 Jul;48(4):227-35.

PMID:
10916280
[PubMed - indexed for MEDLINE]
2.

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.

Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ.

J Hum Genet. 2001;46(4):192-6. Review.

PMID:
11322659
[PubMed - indexed for MEDLINE]
3.

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.

Eng CM, Desnick RJ.

Hum Mutat. 1994;3(2):103-11. Review.

PMID:
7911050
[PubMed - indexed for MEDLINE]
4.

[Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease].

Sakuraba H.

Rinsho Byori. 1994 Jun;42(6):628-35. Review. Japanese.

PMID:
7914243
[PubMed - indexed for MEDLINE]
5.

[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].

Okumiya T, Takata T, Sasaki M, Sakuraba H.

Rinsho Byori. 1997 Feb;45(2):127-35. Review. Japanese.

PMID:
9120996
[PubMed - indexed for MEDLINE]
6.

Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey.

Schaefer E, Mehta A, Gal A.

Acta Paediatr Suppl. 2005 Mar;94(447):87-92; discussion 79. Review.

PMID:
15895718
[PubMed - indexed for MEDLINE]
7.

[Genetics of Fabry disease: diagnostic and therapeutic implications].

Germain DP.

Presse Med. 2007 Mar;36 Spec No 1:1S14-9. Review. French.

PMID:
17546762
[PubMed - indexed for MEDLINE]
8.

A nonsense mutation (R220X) in the alpha-galactosidase A gene causes typical Fabry disease in both genders.

Maki N, Komatsuda A, Wakui H, Oyama Y, Kodama T, Ohtani H, Kigawa A, Aiba N, Imai H, Motegi M, Yamaguchi A, Sawada K.

Clin Nephrol. 2004 Mar;61(3):185-90. Review.

PMID:
15077869
[PubMed - indexed for MEDLINE]
9.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
[PubMed - indexed for MEDLINE]
10.

Structural basis of Fabry disease.

Garman SC, Garboczi DN.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):3-11. Review.

PMID:
12359124
[PubMed - indexed for MEDLINE]
11.

[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].

Germain DP.

J Soc Biol. 2002;196(2):161-73. Review. French.

PMID:
12360745
[PubMed - indexed for MEDLINE]
12.

[Gaucher's and Fabry's diseases: biochemical and genetic aspects].

Caillaud C, Poenaru L.

J Soc Biol. 2002;196(2):135-40. Review. French.

PMID:
12360742
[PubMed - indexed for MEDLINE]
13.

[Fabry disease in light of recent review].

Uyama E.

Brain Nerve. 2008 Nov;60(11):1235-44. Review. Japanese.

PMID:
19069157
[PubMed - indexed for MEDLINE]
14.

[Fabry disease (alpha-galactosidase deficiency)].

Okumiya T, Sakuraba H.

Nihon Rinsho. 1995 Dec;53(12):2952-9. Review. Japanese.

PMID:
8577042
[PubMed - indexed for MEDLINE]
15.

Fibrinogen gene mutations accounting for congenital afibrinogenemia.

Neerman-Arbez M.

Ann N Y Acad Sci. 2001;936:496-508. Review.

PMID:
11460507
[PubMed - indexed for MEDLINE]
16.

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök M, Zajaczek S, Hanukoglu A.

Clin Endocrinol (Oxf). 2005 May;62(5):547-53. Review.

PMID:
15853823
[PubMed - indexed for MEDLINE]
17.

Fabry disease: molecular genetics of the inherited nephropathy.

Desnick RJ, Astrin KH, Bishop DF.

Adv Nephrol Necker Hosp. 1989;18:113-27. Review.

PMID:
2564247
[PubMed - indexed for MEDLINE]
18.

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.

Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, Desviat LR, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel RA.

Hum Mutat. 1999;14(4):275-82. Review.

PMID:
10502773
[PubMed - indexed for MEDLINE]
19.

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.

Myerowitz R.

Hum Mutat. 1997;9(3):195-208. Review.

PMID:
9090523
[PubMed - indexed for MEDLINE]
20.

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A.

Hum Mutat. 2000;15(3):209-19. Review.

PMID:
10679936
[PubMed - indexed for MEDLINE]

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