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Academic Journal

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.

  • Authors : Kinsinger M; Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.; Ivanisevic J

Subjects: Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/diagnosis ; Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/genetics ; Molybdenum Cofactors*/Molybdenum Cofactors*/Molybdenum Cofactors*/deficiencyMolybdenum cofactor deficiency

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Dec 18; Vol. 17 (1), pp. 292. Date of Electronic Publication: 2024 Dec 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.

  • Authors : Schwahn BC; Willink Metabolic Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, UK. Electronic address: .

Subjects: Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/genetics ; Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/diagnosis ; Early Diagnosis*Molybdenum cofactor deficiency

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2024 Dec; Vol. 143 (4), pp. 108598. Date of Electronic Publication: 2024 Oct 29.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Pharmacodynamic profiling in three patients with molybdenum cofactor deficiency type A reveals prolonged biological effects after withdrawal of cyclic pyranopterin monophosphate.

  • Authors : Schwahn BC; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK. Electronic address: .; Barvíková K

Subjects: Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/drug therapy ; Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/genetics ; Xanthine Dehydrogenase*/Xanthine Dehydrogenase*/Xanthine Dehydrogenase*/deficiency Molybdenum cofactor deficiency

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108563. Date of Electronic Publication: 2024 Aug 10.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.

  • Authors : Schwahn BC; Division of Evolution & Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

Subjects: Sulfite Oxidase*/Sulfite Oxidase*/Sulfite Oxidase*/deficiency ; Sulfite Oxidase*/Sulfite Oxidase*/Sulfite Oxidase*/genetics ; Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/diagnosis Molybdenum cofactor deficiency; Sulfite oxidase deficiency

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 598-623. Date of Electronic Publication: 2024 Apr 16.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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Academic Journal

Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay.

  • Authors : Lund AM; Department of Clinical Medicine, University of Copenhagen, and Centre for Inherited Metabolic Diseases, Departments of Pediatrics.; Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

Subjects: Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/etiology ; Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/diagnosis ; Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/complications Molybdenum cofactor deficiency

  • Source: Pediatrics [Pediatrics] 2024 Jun 01; Vol. 153 (6).Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN:

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Editorial & Opinion

Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke Like Episodes: Authors' Reply.

  • Authors : Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India. .; Markose AP

Subjects: Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/diagnosis; Humans ; Diagnosis, Differential Molybdenum cofactor deficiency

  • Source: Indian journal of pediatrics [Indian J Pediatr] 2024 Jul; Vol. 91 (7), pp. 757. Date of Electronic Publication: 2024 Jan 20.Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic

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Report

Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes: Correspondence.

  • Authors : Finsterer J; Department of Neurology, Neurology and Neurophysiology Centre, Postfach 20, 1180, Vienna, Austria. .

Subjects: Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/diagnosis; Humans ; Diagnosis, Differential Molybdenum cofactor deficiency

  • Source: Indian journal of pediatrics [Indian J Pediatr] 2024 Jul; Vol. 91 (7), pp. 756. Date of Electronic Publication: 2024 Jan 19.Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic

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Editorial & Opinion

Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes.

  • Authors : Markose AP; Department of Pediatrics, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India.; Gowda VK

Subjects: Metal Metabolism, Inborn Errors* ; Stroke*; HumansMolybdenum cofactor deficiency

  • Source: Indian journal of pediatrics [Indian J Pediatr] 2024 May; Vol. 91 (5), pp. 527. Date of Electronic Publication: 2023 Dec 28.Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic

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Academic Journal

Teaching NeuroImage: A 2-Year-Old Girl With Molybdenum Cofactor Deficiency.

  • Authors : Duan J; From the Department of Pediatrics, the First Affiliated Hospital of Anhui Medical University, Hefei, China.

Subjects: Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/complications ; Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/diagnostic imaging ; Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/geneticsMolybdenum cofactor deficiency

  • Source: Neurology [Neurology] 2024 Apr 23; Vol. 102 (8), pp. e209317. Date of Electronic Publication: 2024 Mar 25.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Molybdenum Cofactor Deficiency in the Neonate: Expanding the Phenotype.

  • Authors : Hierro F; Centro Hospitalar de Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal. Electronic address: .; Tomé ML

Subjects: Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/complications ; Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/diagnosis ; Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/Metal Metabolism, Inborn Errors*/geneticsMolybdenum cofactor deficiency

  • Source: Pediatric neurology [Pediatr Neurol] 2024 Apr; Vol. 153, pp. 113-115. Date of Electronic Publication: 2024 Feb 01.Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet

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  • 1-10 of  373 results for ""Metal Metabolism, Inborn Errors""