Concurrent combined methylmalonic acidemia and homocystinuria with down syndrome in a Chinese preschool Child: An in-depth case report and literature review

Autor: Rui Dong, Chen Liu, Yulin Liu, Haiyan Zhang, Guohua Liu, Yi Liu, Zhongtao Gai

Publikováno v: Heliyon, Vol 10, Iss 13, Pp e33457- (2024)

Background: Dual occurrence of distinct genetic diseases is exceptionally rare, complicating both diagnosis and management when the conditions share overlapping symptoms. Case presentation: We describe a preschooler girl diagnosed with Down syndrome

Externí odkaz: https://doaj.org/article/d2ac63f9ef984c0182046c64cd87839e

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis

Autor: Narae Hwang, Ja‐Hyun Jang, Eun‐Hae Cho, Rihwa Choi, Suk‐Joo Choi, Hyung‐Doo Park

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)

Abstract Background Combined methylmalonic acidemia and homocystinuria is a rare inherited disorder of intracellular cobalamin metabolism caused by biallelic variants in one of the following genes: MMACHC (cblC), MMADHC (cblD), LMBRD1 (cblF), ABCD4 (

Externí odkaz: https://doaj.org/article/b07b422cf45743238f53c5b6c376b936

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis

Autor: Suk-Joo Choi, Narae Hwang, Ja-Hyun Jang, Hyung-Doo Park, Rihwa Choi, Eun-Hae Cho

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)

Background Combined methylmalonic acidemia and homocystinuria is a rare inherited disorder of intracellular cobalamin metabolism caused by biallelic variants in one of the following genes: MMACHC (cblC), MMADHC (cblD), LMBRD1 (cblF), ABCD4 (cblJ), TH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd1f997661014ffb5dfaa8339669a311
http://europepmc.org/articles/PMC8606215

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

Autor: Higashimoto T; Department of Genetic Medicine and Pediatrics Johns Hopkins University Baltimore Maryland., Kim AY; Department of Genetic Medicine and Pediatrics Johns Hopkins University Baltimore Maryland., Ogawa JT; Department of Genetic Medicine and Pediatrics Johns Hopkins University Baltimore Maryland., Sloan JL; Medical Genomics and Metabolic Genetics Branch National Institute of Human Genome Research, National Institutes of Health Bethesda Maryland., Almuqbil MA; Department of Genetic Medicine and Pediatrics Johns Hopkins University Baltimore Maryland.; Division of Pediatric Neurology King Saud bin Abdulaziz University for Health Sciences Riyadh Saudi Arabia.; King Abdullah International Medical Research Center King Abdullah Specialist Children's Hospital - Ministry of National Guard Riyadh Saudi Arabia., Carlson JM; Department of Neurology Johns Hopkins University Baltimore Maryland., Manoli I; Medical Genomics and Metabolic Genetics Branch National Institute of Human Genome Research, National Institutes of Health Bethesda Maryland., Venditti CP; Medical Genomics and Metabolic Genetics Branch National Institute of Human Genome Research, National Institutes of Health Bethesda Maryland., Gunay-Aygun M; Department of Genetic Medicine and Pediatrics Johns Hopkins University Baltimore Maryland., Wang T; Department of Genetic Medicine and Pediatrics Johns Hopkins University Baltimore Maryland.

Publikováno v: JIMD reports [JIMD Rep] 2019 Dec 13; Vol. 51 (1), pp. 17-24. Date of Electronic Publication: 2019 Dec 13 (Print Publication: 2020).