Li H - Search Results

1

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: li h. 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.

2

Current strategies for the treatment of inborn errors of metabolism.

Gambello MJ, Li H. Gambello MJ, et al. Among authors: li h. 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.

3

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. 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

4

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. 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.

5

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: li h. 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

6

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: li h. 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

7

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.

Katler QS, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry GT, Bosch AM, DeLaO A, Demirbas D, Edman J, Ficicioglu C, Goff M, Hacker S, Knerr I, Lancaster K, Li H, Mendelsohn BA, Nichols B, de Rezende Pinto WBV, Rocha JC, Rubio-Gozalbo ME, Saad-Naguib M, Scholl-Buergi S, Searcy S, de Souza PVS, Wittenauer A, Fridovich-Keil JL. Katler QS, et al. Among authors: li h. J Inherit Metab Dis. 2022 Nov;45(6):1106-1117. doi: 10.1002/jimd.12556. Epub 2022 Sep 26. J Inherit Metab Dis. 2022. PMID: 36093991 Free PMC article.

8

Inborn errors of metabolism and pregnancy.

Murphey K, Krishna I, Li H. Murphey K, et al. Among authors: li h. Am J Obstet Gynecol MFM. 2024 Aug;6(8):101399. doi: 10.1016/j.ajogmf.2024.101399. Epub 2024 Jun 12. Am J Obstet Gynecol MFM. 2024. PMID: 38871294 Review.

9

The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy.

Wang J, Xue J, Gong P, Wu M, Yang W, Jiang S, Wu Y, Jiang Y, Zhang Y, Yuzyuk T, Li H, Yang Z. Wang J, et al. Among authors: li h. Front Pediatr. 2019 Aug 26;7:337. doi: 10.3389/fped.2019.00337. eCollection 2019. Front Pediatr. 2019. PMID: 31508398 Free PMC article.

10

Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.

Valverde de Morales HG, Wang HV, Garber K, Cheng X, Corces VG, Li H. Valverde de Morales HG, et al. Among authors: li h. Am J Med Genet A. 2023 Mar;191(3):718-729. doi: 10.1002/ajmg.a.63065. Epub 2022 Dec 1. Am J Med Genet A. 2023. PMID: 36454652 Free PMC article. Review.

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