Gambello MJ - Search Results

1

The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine.

Li H, Zhao L, Singh R, Ham JN, Fadoju DO, Bean LJH, Zhang Y, Xu Y, Xu HE, Gambello MJ. Li H, et al. Among authors: gambello mj. Mol Genet Metab Rep. 2018 Oct 2;17:46-52. doi: 10.1016/j.ymgmr.2018.09.006. eCollection 2018 Dec. Mol Genet Metab Rep. 2018. PMID: 30294546 Free PMC article.

2

Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.

Li H, Byers HM, Diaz-Kuan A, Vos MB, Hall PL, Tortorelli S, Singh R, Wallenstein MB, Allain M, Dimmock DP, Farrell RM, McCandless S, Gambello MJ. Li H, et al. Among authors: gambello mj. Mol Genet Metab. 2018 Apr;123(4):428-432. doi: 10.1016/j.ymgme.2018.02.016. Epub 2018 Feb 27. Mol Genet Metab. 2018. PMID: 29510902

3

Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia.

Sadat R, Hall PL, Wittenauer AL, Vengoechea ED, Park K, Hagar AF, Singh R, Moore RH, Gambello MJ. Sadat R, et al. Among authors: gambello mj. Mol Genet Metab. 2020 Jan;129(1):20-25. doi: 10.1016/j.ymgme.2019.11.008. Epub 2019 Nov 27. Mol Genet Metab. 2020. PMID: 31813752

4

Current strategies for the treatment of inborn errors of metabolism.

Gambello MJ, Li H. Gambello MJ, et al. J Genet Genomics. 2018 Feb 20;45(2):61-70. doi: 10.1016/j.jgg.2018.02.001. Epub 2018 Feb 14. J Genet Genomics. 2018. PMID: 29500085 Review.

5

Elevated homocysteine levels: What inborn errors of metabolism might we be missing?

Gonzalez A, Smith GH, Gambello MJ, Sokolová J, Kožich V, Li H. Gonzalez A, et al. Among authors: gambello mj. Am J Med Genet A. 2023 Jan;191(1):130-134. doi: 10.1002/ajmg.a.63001. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271828

6

Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I.

Murphey K, George PE, Pencheva B, Porter CC, Wechsler SB, Gambello MJ, Li H. Murphey K, et al. Among authors: gambello mj. Am J Med Genet A. 2022 Sep;188(9):2707-2711. doi: 10.1002/ajmg.a.62891. Epub 2022 Jul 4. Am J Med Genet A. 2022. PMID: 35785415

7

Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B₁₂ Metabolism: Case Reports and Literature Review.

Mullikin D, Pillai N, Sanchez R, O'Donnell-Luria AH, Kritzer A, Tal L, Almannai M, Berry GT, Gambello MJ, Li H, Graham B, Srivaths L, Sutton VR, Grimes A. Mullikin D, et al. Among authors: gambello mj. J Pediatr. 2018 Nov;202:315-319.e2. doi: 10.1016/j.jpeds.2018.06.054. Epub 2018 Jul 26. J Pediatr. 2018. PMID: 30057141 Review.

8

Immune Tolerance Strategies in Siblings with Infantile Pompe Disease-Advantages for a Preemptive Approach to High-Sustained Antibody Titers.

Stenger EO, Kazi Z, Lisi E, Gambello MJ, Kishnani P. Stenger EO, et al. Among authors: gambello mj. Mol Genet Metab Rep. 2015 Sep 1;4:30-34. doi: 10.1016/j.ymgmr.2015.05.004. Mol Genet Metab Rep. 2015. PMID: 26167453 Free PMC article.

9

Analysis of the genomic expression profile in trisomy 18: insight into possible genes involved in the associated phenotypes.

Albizua I, Chopra P, Sherman SL, Gambello MJ, Warren ST. Albizua I, et al. Among authors: gambello mj. Hum Mol Genet. 2020 Jan 15;29(2):238-247. doi: 10.1093/hmg/ddz279. Hum Mol Genet. 2020. PMID: 31813999

10

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.

Perrier S, Gauquelin L, Tétreault M, Tran LT, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C; Care4Rare Canada Consortium; Vanderver A, Bernard G. Perrier S, et al. Among authors: gambello mj. Clin Genet. 2018 Feb;93(2):396-400. doi: 10.1111/cge.13126. Epub 2017 Dec 21. Clin Genet. 2018. PMID: 28857146

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