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Authors :
Yin Z; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.; Zhang C
Subjects: Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/genetics ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diagnosis ; Genotype* Methylmalonic acidemia
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Source:
European journal of medical research [Eur J Med Res] 2024 Nov 10; Vol. 29 (1), pp. 540. Date of Electronic Publication: 2024 Nov 10.Publisher: BioMed Central Country of Publication: England NLM ID: 9517857 Publication Model: Electronic Cited Medium: Internet ISSN: 2047-783X
Record details
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Authors :
Du M; Henan Pediatric Clinical Research Center and Key Laboratory of Child Brain Injury, Institute of Neuroscience, Third Affiliated Hospital of Zhengzhou University, No. 7, Kangfuqian Street, Erqi District, Zhengzhou, China.; Department of Endocrinology, Genetics and Metabolism, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
Subjects: Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diagnostic imaging ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/blood ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/complications Methylmalonic acidemia
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Source:
Scientific reports [Sci Rep] 2024 Oct 14; Vol. 14 (1), pp. 23992. Date of Electronic Publication: 2024 Oct 14.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:
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Authors :
Ling S; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Wu S
Subjects: Neonatal Screening* ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/genetics ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diagnosis Methylmalonic acidemia
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Source:
Human genomics [Hum Genomics] 2024 Jul 29; Vol. 18 (1), pp. 84. Date of Electronic Publication: 2024 Jul 29.Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364
Record details
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Authors :
Jiang YZ; Department of Critical Liver Diseases, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, No. 101 Lu Yuan Dong Road, Tong-Zhou District, Beijing, 110112, China.; Liver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Subjects: Quality of Life* ; Liver Transplantation* ; Amino Acid Metabolism, Inborn Errors*Methylmalonic acidemia
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Source:
World journal of pediatrics : WJP [World J Pediatr] 2024 Aug; Vol. 20 (8), pp. 809-821. Date of Electronic Publication: 2024 Jan 08.Publisher: Springer International Publ Country of Publication: Switzerland NLM ID: 101278599 Publication Model: Print-Electronic Cited Medium: Internet
Record details
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Authors :
Wu SN; Department of Endocrinology and Metabolism, Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, No. 255 Gangdu Street, Zhengzhou, China.; E HS
Subjects: Phenotype* ; Mutation* ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/geneticsMethylmalonic acidemia with homocystinuria
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Source:
World journal of pediatrics : WJP [World J Pediatr] 2024 Aug; Vol. 20 (8), pp. 848-858. Date of Electronic Publication: 2023 Dec 09.Publisher: Springer International Publ Country of Publication: Switzerland NLM ID: 101278599 Publication Model: Print-Electronic Cited Medium: Internet
Record details
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Authors :
Su L; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, 510623, P.R. China.; Sheng H
Subjects: Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/genetics ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diagnosis ; Methylmalonyl-CoA Mutase*/Methylmalonyl-CoA Mutase*/Methylmalonyl-CoA Mutase*/genetics
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Source:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 May 15; Vol. 19 (1), pp. 198. Date of Electronic Publication: 2024 May 15.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172
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Authors :
Guo Y; Department of Laboratory Medicine, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, People's Republic of China; Zhengzhou Key Laboratory for In Vitro Diagnosis of Hypertensive Disorders of Pregnancy, Zhengzhou 450052, People's Republic of China. Electronic address: .
Subjects: Tandem Mass Spectrometry* ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diagnosis ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/geneticsMethylmalonic acidemia
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Source:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Jan 15; Vol. 553, pp. 117729. Date of Electronic Publication: 2023 Dec 19.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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