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Publisher : american academy of pediatrics

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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

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Academic Journal

Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.

Authors : Struys EA; Metabolic Unit, Department of Clinical Chemistry, VU Medical Center, Amsterdam, Netherlands. ; Nota B

Subjects: Consanguinity*; 2-Aminoadipic Acid/2-Aminoadipic Acid/2-Aminoadipic Acid/*analogs & derivatives ; Aldehyde Dehydrogenase/Aldehyde Dehydrogenase/Aldehyde Dehydrogenase/*genetics Molybdenum cofactor deficiency; Pyridoxine-dependent epilepsy

Source: Pediatrics [Pediatrics] 2012 Dec; Vol. 130 (6), pp. e1716-9. Date of Electronic Publication: 2012 Nov 12.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model:

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Academic Journal

Early features in neuroimaging of two siblings with molybdenum cofactor deficiency.

Authors : Higuchi R; Department of Perinatal Medicine, Wakayama Medical University, 811-1 Kimiidera, Wakayama, 641-0012, Japan. .; Sugimoto T

Subjects: Brain*/Brain*/Brain*/pathology ; Echoencephalography* ; Magnetic Resonance Imaging* Molybdenum cofactor deficiency

Source: Pediatrics [Pediatrics] 2014 Jan; Vol. 133 (1), pp. e267-71. Date of Electronic Publication: 2013 Dec 30.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model:

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Academic Journal

Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP.

Authors : Hitzert MM; Division of Metabolic Diseases, Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; Bos AF

Subjects: Metal Metabolism, Inborn Errors/Metal Metabolism, Inborn Errors/Metal Metabolism, Inborn Errors/*drug therapy ; Organophosphorus Compounds/Organophosphorus Compounds/Organophosphorus Compounds/*therapeutic use ; Pterins/Pterins/Pterins/*therapeutic useMolybdenum Cofactor Deficiency, Complementation Group A

Source: Pediatrics [Pediatrics] 2012 Oct; Vol. 130 (4), pp. e1005-10. Date of Electronic Publication: 2012 Sep 17.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model:

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Academic Journal

Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects.

Authors : Danks DM; Campbell PE; Stevens BJ

Subjects: Hair*; Copper/Copper/Copper/*metabolism ; Metal Metabolism, Inborn Errors/Metal Metabolism, Inborn Errors/Metal Metabolism, Inborn Errors/*genetics

Source: Pediatrics [Pediatrics] 1972 Aug; Vol. 50 (2), pp. 188-201.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print

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Academic Journal

Kinky hair disease.

Authors : Menkes JH

Subjects: Hair*; Copper/Copper/Copper/*metabolism ; Metabolism, Inborn Errors/Metabolism, Inborn Errors/Metabolism, Inborn Errors/*genetics

Source: Pediatrics [Pediatrics] 1972 Aug; Vol. 50 (2), pp. 181-3.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print

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