Dramatic Clinical Improvement With Biotin Mega-Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency.

Autor: Kim SW; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea., Lee HJ; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea., Choi N; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea., Kim EK; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.; Rare Disease Center, Seoul National University Children's Hospital, Seoul, South Korea., Ko JM; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.; Rare Disease Center, Seoul National University Children's Hospital, Seoul, South Korea.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Aug; Vol. 12 (8), pp. e70002.

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Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency

Autor: Seon Woo Kim, Hyeon Joo Lee, Naye Choi, Ee‐Kyung Kim, Jung Min Ko

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 12, Iss 8, Pp n/a-n/a (2024)

ABSTRACT Introduction Holocarboxylase synthetase deficiency (HLCS deficiency, OMIM #253270) is an exceedingly rare metabolic disorder resulting in multiple carboxylase deficiencies owing to impaired biotin cycle. Clinical manifestations include sever

Externí odkaz: https://doaj.org/article/4959441a6d4c46a5a75fbc5c95d12ccf

Successful treatment with secukinumab of psoriasis-like dermatitis in a patient with holocarboxylase synthetase deficiency.

Autor: Liu H; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Wei R; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Yang Y; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Zhang Z; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Yang Y; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Tang J; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Chen J; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Zhang J; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Gu Y; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Yao Z; Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Publikováno v: The Journal of dermatology [J Dermatol] 2023 Mar; Vol. 50 (3), pp. 401-406. Date of Electronic Publication: 2022 Nov 07.

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