Menu

Baxter-Patrick James Island

9 a.m. – 8 p.m.

Phone: (843) 795-6679

West Ashley Library

9 a.m. – 7 p.m.

Phone: (843) 766-6635

Wando Mount Pleasant Library

9 a.m. – 8 p.m.

Phone: (843) 805-6888

Village Library

9 a.m. – 6 p.m.

Phone: (843) 884-9741

St. Paul's/Hollywood Library

9 a.m. – 8 p.m.

Phone: (843) 889-3300

Otranto Road Library

9 a.m. – 8 p.m.

Phone: (843) 572-4094

Mt. Pleasant Library

9 a.m. – 8 p.m.

Phone: (843) 849-6161

McClellanville Library

9 a.m. – 6 p.m.

Phone: (843) 887-3699

Keith Summey North Charleston Library

9 a.m. – 8 p.m.

Phone: (843) 744-2489

John's Island Library

9 a.m. – 8 p.m.

Phone: (843) 559-1945

Hurd/St. Andrews Library

9 a.m. – 8 p.m.

Phone: (843) 766-2546

Folly Beach Library

Closed

Phone: (843) 588-2001

Edisto Island Library

9 a.m. – 6 p.m.

Phone: (843) 869-2355

Dorchester Road Library

9 a.m. – 8 p.m.

Phone: (843) 552-6466

John L. Dart Library

9 a.m. – 7 p.m.

Phone: (843) 722-7550

Main Library

9 a.m. – 8 p.m.

Phone: (843) 805-6930

Bees Ferry West Ashley Library

9 a.m. – 8 p.m.

Phone: (843) 805-6892

Edgar Allan Poe/Sullivan's Island Library

Closed for renovations

Phone: (843) 883-3914

Mobile Library

9 a.m. - 5 p.m.

Phone: (843) 805-6909

Item request has been placed!

Item request cannot be made.

Processing Request

Search Results

Display Settings

Results per page: 10

Sort By: Relevance

Your Filters

Publication : pediatrics

Item request has been placed!

Item request cannot be made.

Processing Request

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

Read More Add to Saved list

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:

Read More Add to Saved list

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:

Read More Add to Saved list

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:

Read More Add to Saved list

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

Read More Add to Saved list

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

Read More Add to Saved list