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Results in this book: 11

GeneReviews® [Internet].

GeneReviews® [Internet].

Adam MP, Bick S, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2026.

GeneReviews by Title   GeneReviews Advanced Search   Help

1.

Fumarate Hydratase Deficiency.

Coman D, Kranc KR, Christodoulou J. 2006 Jul 5 [Updated 2026 Jun 9].

2.

Pyruvate Carboxylase Deficiency.

Duque Lasio ML, Lehman AN, Ahmad A, et al. 2009 Jun 2 [Updated 2024 May 30].

3.

Beta-Thalassemia.

Langer AL. 2000 Sep 28 [Updated 2026 Feb 12].

4.

EPB42-Related Hereditary Spherocytosis.

Kalfa TA, Begtrup AH. 2014 Mar 13 [Updated 2022 Apr 7].

5.

Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish Population.

Wallace SE, Puffenberger EG, Bean LJH. 2020 Jun 18 [Updated 2023 Dec 7].

6.

HFE-Related Hemochromatosis.

Barton JC, Parker CJ. 2000 Apr 3 [Updated 2024 Apr 11].

7.

Alpha-Thalassemia.

Tamary H, Greenberg-Kushnir N, Dgany O. 2005 Nov 1 [Updated 2026 Apr 23].

8.

HAMP- and HJV-Related Hemochromatosis.

Mariani R, Bertola F, Piperno A. 2005 Feb 17 [Updated 2025 Dec 4].

9.

Sickle Cell Disease.

Bender MA, Carlberg K. 2003 Sep 15 [Updated 2025 Feb 13].

10.

SLC39A14 Deficiency.

Tuschl K, Gregory A, Meyer E, et al. 2017 May 25 [Updated 2022 Dec 8].

11.

3-Hydroxyisobutyryl-CoA Hydrolase Deficiency.

Abdenur J, Barrick R. 2025 Nov 20 [Updated 2026 Feb 12].

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