U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results in this book: 1 to 20 of 102

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.

Disorders of Intracellular Cobalamin Metabolism.

Sloan JL, Carrillo N, Adams D, et al. 2008 Feb 25 [Updated 2021 Dec 16].

2.

Riboflavin Transporter Deficiency.

Cali E, Dominik N, Manole A, et al. 2015 Jun 11 [Updated 2021 Apr 8].

3.

PNPO Deficiency.

Plecko B, Mills P. 2022 Jun 23.

4.

Brugada Syndrome.

Brugada R, Campuzano O, Sarquella-Brugada G, et al. 2005 Mar 31 [Updated 2022 Aug 25].

5.

Pyridoxine-Dependent Epilepsy – ALDH7A1.

Gospe SM Jr. 2001 Dec 7 [Updated 2022 Sep 22].

6.

Pancreatitis Overview.

Vallente R, Whitcomb DC. 2014 Mar 13 [Updated 2026 Apr 23].

7.

PLPBP Deficiency.

Al-Shekaili H, Ciapaite J, van Karnebeek C, et al. 2023 Feb 16.

8.

Homocystinuria due to Cystathionine Beta-Synthase Deficiency.

Sacharow SJ, Levy HL. 2004 Jan 15 [Updated 2025 Sep 25].

9.
10.

Primary Ciliary Dyskinesia.

Zariwala MA, Despotes KA, Davis SD. 2007 Jan 24 [Updated 2025 May 22].

11.

Primary Hyperoxaluria Type 1.

Milliner DS, Harris PC, Sas DJ, et al. 2002 Jun 19 [Updated 2025 Dec 11].

12.
13.

Ataxia with Vitamin E Deficiency.

Schuelke M. 2005 May 20 [Updated 2023 Mar 16].

14.

Celiac Disease.

Taylor AK, Lebwohl B, Snyder CL, et al. 2008 Jul 3 [Updated 2025 Dec 4].

15.

FOLR1-Related Cerebral Folate Transport Deficiency.

Goldman ID. 2024 Jan 11 [Updated 2025 Dec 18].

16.

Molybdenum Cofactor Deficiency.

Misko A, Mahtani K, Abbott J, et al. 2021 Dec 2 [Updated 2023 Feb 2].

17.

Zellweger Spectrum Disorder.

Steinberg SJ, Raymond GV, Braverman NE, et al. 2003 Dec 12 [Updated 2020 Oct 29].

18.

Isolated Methylmalonic Acidemia.

Manoli I, Sloan JL, Venditti CP. 2005 Aug 16 [Updated 2022 Sep 8].

19.

Aromatic L-Amino Acid Decarboxylase Deficiency.

Blau N, Pearson TS, Kurian MA, et al. 2023 Oct 12 [Updated 2025 Jan 23].

20.

Hereditary Folate Malabsorption.

Goldman ID. 2008 Jun 17 [Updated 2026 Mar 25].

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...