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Items: 1 to 20 of 402

1.

Controversies on the potential therapeutic use of rapamycin for treating a lysosomal cholesterol storage disease.

Calderón JF, Klein AD.

Mol Genet Metab Rep. 2018 May 12;15:135-136. doi: 10.1016/j.ymgmr.2018.05.001. eCollection 2018 Jun. No abstract available.

PMID:
30023307
2.

Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant.

Gropman A, Chiaramello A.

Mol Genet Metab Rep. 2018 May 7;15:134. doi: 10.1016/j.ymgmr.2018.04.004. eCollection 2018 Jun. No abstract available.

PMID:
30023306
3.

Marked elevation in plasma trimethylamine-N-oxide (TMAO) in patients with mitochondrial disorders treated with oral l-carnitine.

Vallance HD, Koochin A, Branov J, Rosen-Heath A, Bosdet T, Wang Z, Hazen SL, Horvath G.

Mol Genet Metab Rep. 2018 May 3;15:130-133. doi: 10.1016/j.ymgmr.2018.04.005. eCollection 2018 Jun.

PMID:
30023305
4.

Retrospective analysis of small cohorts does not support therapeutic efficacy of l-arginine.

Shoffner J.

Mol Genet Metab Rep. 2018 Apr 27;15:129. doi: 10.1016/j.ymgmr.2018.04.002. eCollection 2018 Jun. No abstract available.

PMID:
30023304
5.

Vaccination triggering onset of m.8993T > G associated Leigh syndrome.

Finsterer J, Zarrouk-Mahjoub S.

Mol Genet Metab Rep. 2018 Apr 25;15:127-128. doi: 10.1016/j.ymgmr.2018.04.001. eCollection 2018 Jun. No abstract available.

PMID:
30023303
6.

A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family.

Singh J, Muhammad PK, Jain S, Mathur A, Parveen S, Joshi A, Uppili B, Shaji CV, Kabeer KA, Menon S, Faruq M.

Mol Genet Metab Rep. 2018 Apr 18;15:124-126. doi: 10.1016/j.ymgmr.2018.04.003. eCollection 2018 Jun.

PMID:
30023302
7.

Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation.

Watanabe K, Yamada K, Sameshima K, Yamaguchi S.

Mol Genet Metab Rep. 2018 Apr 13;15:121-123. doi: 10.1016/j.ymgmr.2018.03.007. eCollection 2018 Jun.

PMID:
30023301
8.

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program.

Pintos-Morell G, Blasco-Alonso J, Couce ML, Gutiérrez-Solana LG, Guillén-Navarro E, O'Callaghan M, Del Toro M.

Mol Genet Metab Rep. 2018 Apr 5;15:116-120. doi: 10.1016/j.ymgmr.2018.03.009. eCollection 2018 Jun.

PMID:
30023300
9.

Genetic and clinical characteristics of Filipino patients with Gaucher disease.

Chiong MAD, Racoma MJC, Abacan MAR.

Mol Genet Metab Rep. 2018 Apr 5;15:110-115. doi: 10.1016/j.ymgmr.2018.03.010. eCollection 2018 Jun.

PMID:
30023299
10.

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data.

Chapman KA, Gramer G, Viall S, Summar ML.

Mol Genet Metab Rep. 2018 Apr 5;15:106-109. doi: 10.1016/j.ymgmr.2018.03.011. eCollection 2018 Jun.

PMID:
30023298
11.

Salivary serotonin does not correlate with central serotonin turnover in adult phenylketonuria (PKU) patients.

Leung J, Selvage C, Bosdet T, Branov J, Rosen-Heath A, Bishop C, Sirrs S, Horvath G.

Mol Genet Metab Rep. 2018 Apr 5;15:100-105. doi: 10.1016/j.ymgmr.2018.03.008. eCollection 2018 Jun.

PMID:
30023297
12.

Serendipitous effects of β-cyclodextrin on murine model of Krabbe disease.

Katabuchi AU, Godoy V, Shil P, Moser A, Maegawa GHB.

Mol Genet Metab Rep. 2018 Mar 26;15:98-99. doi: 10.1016/j.ymgmr.2018.03.002. eCollection 2018 Jun. No abstract available.

PMID:
30023296
13.

Causes of low muscle coenzyme-Q levels beyond primary coenzyme-Q-deficiency.

Finsterer J, Zarrouk-Mahjoub S.

Mol Genet Metab Rep. 2018 Apr 5;15:96-97. doi: 10.1016/j.ymgmr.2018.03.006. eCollection 2018 Jun. No abstract available.

PMID:
30023295
14.

Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals.

Mashima R, Maekawa M, Narita A, Okuyama T, Mano N.

Mol Genet Metab Rep. 2018 Mar 21;15:90-95. doi: 10.1016/j.ymgmr.2018.03.005. eCollection 2018 Jun.

PMID:
30023294
15.

A beneficial effect of l-arginine for stroke-like episodes is currently unsupported.

Finsterer J, Zarrouk-Mahjoub S.

Mol Genet Metab Rep. 2018 Feb 26;15:67-68. doi: 10.1016/j.ymgmr.2018.02.006. eCollection 2018 Jun. No abstract available.

PMID:
30023293
16.

BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy.

Finsterer J, Zarrouk-Mahjoub S.

Mol Genet Metab Rep. 2018 Feb 22;15:65-66. doi: 10.1016/j.ymgmr.2018.02.002. eCollection 2018 Jun. No abstract available.

PMID:
30023292
17.

The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.

Al-Hassnan ZN, Khalifa OA, Bubshait DK, Tulbah S, Alkorashy M, Alzaidan H, Alowain M, Rahbeeni Z, Al-Sayed M.

Mol Genet Metab Rep. 2018 Feb 7;15:50-54. doi: 10.1016/j.ymgmr.2018.02.001. eCollection 2018 Jun.

PMID:
30023291
18.

Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders.

Altassan R, Fox S, Poulin C, Buhas D.

Mol Genet Metab Rep. 2018 Feb 6;15:46-49. doi: 10.1016/j.ymgmr.2018.01.007. eCollection 2018 Jun.

PMID:
30023290
19.

An atypical p.N215S variant of Fabry disease with end-stage renal failure.

Sugarman M, Choudhury J, Jovanovic A.

Mol Genet Metab Rep. 2018 Feb 6;15:43-45. doi: 10.1016/j.ymgmr.2018.01.006. eCollection 2018 Jun.

PMID:
30023289
20.

Effects of cold exposure on metabolites in brown adipose tissue of rats.

Hiroshima Y, Yamamoto T, Watanabe M, Baba Y, Shinohara Y.

Mol Genet Metab Rep. 2018 Feb 3;15:36-42. doi: 10.1016/j.ymgmr.2018.01.005. eCollection 2018 Jun.

PMID:
30023288

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