Almashanu S - Search Results

1

Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.

Alano A, Almashanu S, Chinsky JM, Costeas P, Blitzer MG, Wulfsberg EA, Cowan TM. Alano A, et al. Among authors: almashanu s. J Inherit Metab Dis. 1998 Jun;21(4):341-50. doi: 10.1023/a:1005342306080. J Inherit Metab Dis. 1998. PMID: 9700591

2

Hereditary orotic aciduria identified by newborn screening.

Staretz-Chacham O, Damseh NS, Daas S, Abu Salah N, Anikster Y, Barel O, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Hershkovitz E, Josefsberg S, Landau Y, Lerman-Sagie T, Mandel H, Rock R, Rostami N, Saraf-Levy T, Shaul Lotan N, Spiegel R, Tal G, Ulanovsky I, Wilnai Y, Korman SH, Almashanu S. Staretz-Chacham O, et al. Among authors: almashanu s. Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023. Front Genet. 2023. PMID: 36999056 Free PMC article.

3

Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.

Quimby BB, Alano A, Almashanu S, DeSandro AM, Cowan TM, Fridovich-Keil JL. Quimby BB, et al. Among authors: almashanu s. Am J Hum Genet. 1997 Sep;61(3):590-8. doi: 10.1086/515517. Am J Hum Genet. 1997. PMID: 9326324 Free PMC article.

4

Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.

Reissner K, Tayebi N, Stubblefield BK, Koprivica V, Blitzer M, Holleran W, Cowan T, Almashanu S, Maddalena A, Karson EM, Sidransky E. Reissner K, et al. Among authors: almashanu s. Mol Genet Metab. 1998 Apr;63(4):281-8. doi: 10.1006/mgme.1998.2675. Mol Genet Metab. 1998. PMID: 9635296

5

A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.

Chinsky J, Appel M, Almashanu S, Costeas P, Ambulos N Jr, Carmi R. Chinsky J, et al. Among authors: almashanu s. Hum Mutat. 1998;12(2):136. doi: 10.1002/(SICI)1098-1004(1998)12:2<136::AID-HUMU11>3.0.CO;2-0. Hum Mutat. 1998. PMID: 10694918

6

Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.

Daas S, Abu Salah N, Anikster Y, Barel O, Damseh NS, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Habib C, Josefsberg S, Korman SH, Kneller K, Landau Y, Lerman-Sagie T, Mandel H, Manor Y, Moady Abdalla T, Rock R, Rostami N, Saada A, Saraf-Levy T, Shaul Lotan N, Spiegel R, Staretz-Chacham O, Tal G, Ulanovsky I, Vaisid T, Wilnai Y, Almashanu S. Daas S, et al. Among authors: almashanu s. J Inherit Metab Dis. 2023 Mar;46(2):232-242. doi: 10.1002/jimd.12580. Epub 2022 Dec 20. J Inherit Metab Dis. 2023. PMID: 36515074

7

Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.

Rock R, Rock O, Daas S, Biton-Regev V, Sagiv N, Salah NA, Anikster Y, Barel O, Cohen RH, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Herskovitz E, Josefsberg S, Khammash H, Kneller K, Korman SH, Landau YE, Lerman-Sagie T, Mandel H, Pras E, Reznik-Wolf H, Shaag A, Lotan NS, Spiegel R, Tal G, Staretz-Chacham O, Wilnai Y, Almashanu S. Rock R, et al. Among authors: almashanu s. J Inherit Metab Dis. 2025 Jan;48(1):e12800. doi: 10.1002/jimd.12800. Epub 2024 Sep 24. J Inherit Metab Dis. 2025. PMID: 39318119

8

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D. Baumgartner MR, et al. Among authors: almashanu s. J Clin Invest. 2001 Feb;107(4):495-504. doi: 10.1172/JCI11948. J Clin Invest. 2001. PMID: 11181649 Free PMC article.

9

The role of orotic acid measurement in routine newborn screening for urea cycle disorders.

Staretz-Chacham O, Daas S, Ulanovsky I, Blau A, Rostami N, Saraf-Levy T, Abu Salah N, Anikster Y, Banne E, Dar D, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Hershkovitz E, Josefsberg S, Khammash H, Keidar R, Korman SH, Landau Y, Lerman-Sagie T, Mandel D, Mandel H, Marom R, Morag I, Nadir E, Yosha-Orpaz N, Pode-Shakked B, Pras E, Reznik-Wolf H, Saada A, Segel R, Shaag A, Shaul Lotan N, Spiegel R, Tal G, Vaisid T, Zeharia A, Almashanu S. Staretz-Chacham O, et al. Among authors: almashanu s. J Inherit Metab Dis. 2021 May;44(3):606-617. doi: 10.1002/jimd.12331. Epub 2020 Nov 30. J Inherit Metab Dis. 2021. PMID: 33190319

10

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.

Rips J, Almashanu S, Mandel H, Josephsberg S, Lerman-Sagie T, Zerem A, Podeh B, Anikster Y, Shaag A, Luder A, Staretz Chacham O, Spiegel R. Rips J, et al. Among authors: almashanu s. J Inherit Metab Dis. 2016 Mar;39(2):211-7. doi: 10.1007/s10545-015-9899-4. Epub 2015 Nov 13. J Inherit Metab Dis. 2016. PMID: 26566957

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

50 results

Search Page

Filters