Almuqbil M - Search Results

1

De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability.

Almuqbil M, Hamdan FF, Mathonnet G, Rosenblatt B, Srour M. Almuqbil M, et al. Eur J Med Genet. 2013 Dec;56(12):686-8. doi: 10.1016/j.ejmg.2013.10.003. Epub 2013 Oct 24. Eur J Med Genet. 2013. PMID: 24161494

2

Child neurology: Andersen-Tawil syndrome.

Almuqbil M, Srour M. Almuqbil M, et al. Neurology. 2015 Mar 17;84(11):e78-80. doi: 10.1212/WNL.0000000000001377. Neurology. 2015. PMID: 25780024 No abstract available.

3

Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.

Abukhaled M, Al Muqbil M, Alghamdi MA, Hundallah K, Suleiman J, Ben-Omran T, Alfadhel M, Almannai M, Alsaleh R, Tabarki B. Abukhaled M, et al. Eur J Pediatr. 2023 Jun;182(6):2535-2545. doi: 10.1007/s00431-023-04886-5. Epub 2023 Mar 16. Eur J Pediatr. 2023. PMID: 36928758 Free PMC article. Review.

4

Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.

Abukhaled M, Al Muqbil M, Alghamdi MA, Hundallah K, Suleiman J, Ben-Omran T, Alfadhel M, Almannai M, Alsaleh R, Tabarki B. Abukhaled M, et al. Eur J Pediatr. 2023 Jun;182(6):2547-2548. doi: 10.1007/s00431-023-05012-1. Eur J Pediatr. 2023. PMID: 37140704 Free PMC article. No abstract available.

5

New Paradigm for the Treatment of Glucose Transporter 1 Deficiency Syndrome: Low Glycemic Index Diet and Modified High Amylopectin Cornstarch.

Almuqbil M, Go C, Nagy LL, Pai N, Mamak E, Mercimek-Mahmutoglu S. Almuqbil M, et al. Pediatr Neurol. 2015 Sep;53(3):243-6. doi: 10.1016/j.pediatrneurol.2015.06.018. Epub 2015 Jun 26. Pediatr Neurol. 2015. PMID: 26216499

6

Metabolic Strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy.

Almuqbil M, Chinsky JM, Srivastava S. Almuqbil M, et al. Child Neurol Open. 2019 Sep 3;6:2329048X19873242. doi: 10.1177/2329048X19873242. eCollection 2019. Child Neurol Open. 2019. PMID: 31523698 Free PMC article.

7

Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome.

Hornby B, Thompson WR, Almuqbil M, Manuel R, Abbruscato A, Carr J, Vernon HJ. Hornby B, et al. Among authors: almuqbil m. Orphanet J Rare Dis. 2022 Sep 2;17(1):336. doi: 10.1186/s13023-022-02469-5. Orphanet J Rare Dis. 2022. PMID: 36056411 Free PMC article. Clinical Trial.

8

High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.

Higashimoto T, Kim AY, Ogawa JT, Sloan JL, Almuqbil MA, Carlson JM, Manoli I, Venditti CP, Gunay-Aygun M, Wang T. Higashimoto T, et al. Among authors: almuqbil ma. JIMD Rep. 2019 Dec 13;51(1):17-24. doi: 10.1002/jmd2.12087. eCollection 2020 Jan. JIMD Rep. 2019. PMID: 32071835 Free PMC article.

9

Milder presentation of autosomal dominant fatty acyl CoA reductase 1-related syndrome: Report of the first Middle Eastern patient and review of the literature.

Almuqbil M, AbuMelha A, Albokhari D. Almuqbil M, et al. Clin Case Rep. 2022 Oct 13;10(10):e6307. doi: 10.1002/ccr3.6307. eCollection 2022 Oct. Clin Case Rep. 2022. PMID: 36254151 Free PMC article.

10

Late Development of Hepatocellular Carcinoma in Tyrosinemia Type 1 Despite Nitisinone (NTBC) Treatment.

Almuqbil M, Knoll J, Chinsky JM. Almuqbil M, et al. J Pediatr Gastroenterol Nutr. 2020 Aug;71(2):e73-e75. doi: 10.1097/MPG.0000000000002698. J Pediatr Gastroenterol Nutr. 2020. PMID: 32141999 No abstract available.

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