Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1980 1
1987 1
1995 1
1998 1
2002 1
2004 1
2010 1
2011 1
2012 2
2013 1
2016 1
2018 1
2019 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

13 results

Results by year

Filters applied: . Clear all
Page 1
Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease.
Gailus S, Höhne W, Gasnier B, Nürnberg P, Fowler B, Rutsch F. Gailus S, et al. J Mol Med (Berl). 2010 May;88(5):459-66. doi: 10.1007/s00109-010-0601-x. Epub 2010 Feb 20. J Mol Med (Berl). 2010. PMID: 20174775 Review.
In man, cobalamin deficiency leads to anemia and neurologic and cognitive impairment. In the cblF inborn error of vitamin B(12) metabolism, free vitamin accumulates in lysosomes and cannot be converted to cofactors for mitochondrial methylmalonyl-CoA mutase and cyto …
In man, cobalamin deficiency leads to anemia and neurologic and cognitive impairment. In the cblF inborn error of vitamin B(12) metab …
[Pulmonary phenotypes of inborn errors of metabolism].
Mauhin W, Brassier A, London J, Subran B, Zeggane A, Besset Q, Jammal C, Montardi C, Mellot C, Strauss C, Borie R, Lidove O. Mauhin W, et al. Rev Mal Respir. 2022 Nov;39(9):758-777. doi: 10.1016/j.rmr.2022.09.002. Epub 2022 Oct 10. Rev Mal Respir. 2022. PMID: 36229356 Review. French.
In this review, we focus on different metabolic diseases with respiratory symptoms in adults: lysosomal glycosphingolipidoses such as acid sphingomyelinase deficiency (Niemann-Pick types A and B disease), Gaucher, Fabry, Pompe diseases and mucopolysaccharidos …
In this review, we focus on different metabolic diseases with respiratory symptoms in adults: lysosomal glycosphingolipidoses such as …
Movement Disorders in Treatable Inborn Errors of Metabolism.
Ebrahimi-Fakhari D, Van Karnebeek C, Münchau A. Ebrahimi-Fakhari D, et al. Mov Disord. 2019 May;34(5):598-613. doi: 10.1002/mds.27568. Epub 2018 Dec 17. Mov Disord. 2019. PMID: 30557456 Review.
Common metabolic movement disorders include the monoamine neurotransmitter disorders, disorders of amino and organic acid metabolism, metal storage disorders, lysosomal storage disorders, congenital disorders of autop …
Common metabolic movement disorders include the monoamine neurotransmitter disorders, disorders of amino and org …
Disorders of lysosomal membrane transport--cystinosis and Salla disease.
Gahl WA. Gahl WA. Enzyme. 1987;38(1-4):154-60. doi: 10.1159/000469201. Enzyme. 1987. PMID: 3326729 Review.
In cystinosis, the disulfide amino acid, cystine, accumulates and in free sialic acid storage disorders, N-acetylneuraminic acid is stored. ...Cystine and sialic acid serve as prototypes for amino acids and sugars transpo
In cystinosis, the disulfide amino acid, cystine, accumulates and in free sialic acid storage disorders, N-acety …
Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.
van Karnebeek CD, Stockler S. van Karnebeek CD, et al. Mol Genet Metab. 2012 Mar;105(3):368-81. doi: 10.1016/j.ymgme.2011.11.191. Epub 2011 Nov 30. Mol Genet Metab. 2012. PMID: 22212131 Free article. Review.
We assessed levels of evidence of treatments and characterised the effect of treatments on IQ/development and related outcomes. RESULTS: We identified a total of 81 'treatable inborn errors of metabolism' presenting with intellectual disability as a major feature, includin …
We assessed levels of evidence of treatments and characterised the effect of treatments on IQ/development and related outcomes. RESULTS: We …
Peroxisomal ABC transporters: structure, function and role in disease.
Morita M, Imanaka T. Morita M, et al. Biochim Biophys Acta. 2012 Sep;1822(9):1387-96. doi: 10.1016/j.bbadis.2012.02.009. Epub 2012 Feb 17. Biochim Biophys Acta. 2012. PMID: 22366764 Free article. Review.
ATP-binding cassette (ABC) transporters belong to one of the largest families of membrane proteins, and are present in almost all living organisms from eubacteria to mammals. ...These include the transport of amino acids, polysaccharides, …
ATP-binding cassette (ABC) transporters belong to one of the largest families of membrane proteins, and are present in …
Genetic defects of folate and cobalamin metabolism.
Fowler B. Fowler B. Eur J Pediatr. 1998 Apr;157 Suppl 2:S60-6. doi: 10.1007/pl00014306. Eur J Pediatr. 1998. PMID: 9587028 Review.
Disorders of malabsorption (food cobalamin malabsorption, intrinsic factor deficiency and abnormal enterocyte cobalamin processing) and transport proteins (transcobalamin II deficiency, R-binder deficiency) mostly lead to disturbed function of the two cobalam
Disorders of malabsorption (food cobalamin malabsorption, intrinsic factor deficiency and abnormal enterocyte cobalamin processing) a
Recent developments and new applications of tandem mass spectrometry in newborn screening.
Rinaldo P, Tortorelli S, Matern D. Rinaldo P, et al. Curr Opin Pediatr. 2004 Aug;16(4):427-33. doi: 10.1097/01.mop.0000133635.79661.84. Curr Opin Pediatr. 2004. PMID: 15273505 Review.
PURPOSE OF REVIEW: To summarize recent developments in the field of newborn screening related to the use of tandem mass spectrometry as an analytic platform. RECENT FINDINGS: Novel inborn errors of metabolism with informative amino acid and/or acylcarnitine p …
PURPOSE OF REVIEW: To summarize recent developments in the field of newborn screening related to the use of tandem mass spectrometry as an a …
Vitamin B12 in health and disease: part I--inherited disorders of function, absorption, and transport.
Kapadia CR. Kapadia CR. Gastroenterologist. 1995 Dec;3(4):329-44. Gastroenterologist. 1995. PMID: 8775094 Review.
It is transported into all other cells only when bound to another transport protein, transcobalamin II. ...This reaction is in the pathway for the metabolism of odd chain fatty acids via propionic acid, as well as that of the amino acids
It is transported into all other cells only when bound to another transport protein, transcobalamin II. ...This reaction is in …
13 results