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 62

GeneReviews® [Internet].

GeneReviews® [Internet].

Adam MP, Everman DB, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2023.

GeneReviews by Title   GeneReviews Advanced Search   Help


1.

Isolated Methylmalonic Acidemia.

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

2.
3.

Glutaric Acidemia Type 1.

Larson A, Goodman S. 2019 Sep 19.

4.

Propionic Acidemia.

Shchelochkov OA, Carrillo N, Venditti C. 2012 May 17 [Updated 2016 Oct 6].

5.

Disorders of Intracellular Cobalamin Metabolism.

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

6.

Hereditary Fructose Intolerance.

Gaughan S, Ayres L, Baker PR II. 2015 Dec 17 [Updated 2021 Feb 18].

7.

Autosomal Dominant Tubulointerstitial Kidney Disease – REN.

Živná M, Kidd K, Kmoch S, et al. 2011 Apr 5 [Updated 2020 Dec 10].

8.

MELAS.

El-Hattab AW, Almannai M, Scaglia F. 2001 Feb 27 [Updated 2018 Nov 29].

9.

RRM2B Mitochondrial DNA Maintenance Defects.

Lim AZ, McFarland R, Taylor RW, et al. 2014 Apr 17 [Updated 2021 Jun 24].

11.

Zellweger Spectrum Disorder.

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

15.

PMM2-CDG.

Lam C, Krasnewich DM. 2005 Aug 15 [Updated 2021 May 20].

16.

Maple Syrup Urine Disease.

Strauss KA, Puffenberger EG, Carson VJ. 2006 Jan 30 [Updated 2020 Apr 23].

17.

Familial Hemophagocytic Lymphohistiocytosis.

Zhang K, Astigarraga I, Bryceson Y, et al. 2006 Mar 22 [Updated 2021 Sep 30].

18.
19.

Short-Chain Acyl-CoA Dehydrogenase Deficiency.

Wolfe L, Jethva R, Oglesbee D, et al. 2011 Sep 22 [Updated 2018 Aug 9].

20.

Mitochondrial DNA-Associated Leigh Syndrome and NARP.

Thorburn DR, Rahman J, Rahman S. 2003 Oct 30 [Updated 2017 Sep 28].

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Images search in this book

  • Figure 1.
  • Figure 1.
  • Figure 2.
  • Figure 2.
See more (5)...

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...