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Literature DB >> 3917550

Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy.

T O Carpenter, H L Levy, M E Holtrop, V E Shih, C S Anast.

Abstract

Entities: Chemical Disease

Mesh：

Substances：

Year: 1985 PMID： 3917550 DOI： 10.1056/NEJM198501313120506

Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245

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14 in total

1. Nutrient intake in lysinuric protein intolerance.

Authors: L M Tanner; K Näntö-Salonen; J Venetoklis; S Kotilainen; H Niinikoski; K Huoponen; O Simell
Journal: J Inherit Metab Dis Date: 2007-06-21 Impact factor: 4.982

2. Lysinuric protein intolerance presenting as coma in a middle-aged man.

Authors: M Gare; M Shalit; A Gutman
Journal: West J Med Date: 1996-10

3. An unusual aminoacidopathy associated with mitochondrial encephalomyopathy.

Authors: T L Perry; S Hansen; F A Booth; A M Penn; K Jones; L A Dilling
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

4. Familial lysinuric protein intolerance presenting as coma in two adult siblings.

Authors: P J Shaw; G Dale; D Bates
Journal: J Neurol Neurosurg Psychiatry Date: 1989-05 Impact factor: 10.154

5. Oral citrulline as arginine precursor may be beneficial in sickle cell disease: early phase two results.

Authors: W H Waugh; C W Daeschner; B A Files; M E McConnell; S E Strandjord
Journal: J Natl Med Assoc Date: 2001-10 Impact factor: 1.798

6. A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.

Authors: Bridget M Stroup; Ronit Marom; Xiaohui Li; Chih-Wei Hsu; Cheng-Yen Chang; Luan D Truong; Brian Dawson; Ingo Grafe; Yuqing Chen; Ming-Ming Jiang; Denise Lanza; Jennie Rose Green; Qin Sun; J P Barrish; Safa Ani; Audrey E Christiansen; John R Seavitt; Mary E Dickinson; Farrah Kheradmand; Jason D Heaney; Brendan Lee; Lindsay C Burrage
Journal: Hum Mol Genet Date: 2020-08-03 Impact factor: 6.150

Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy.

1. Nutrient intake in lysinuric protein intolerance.

2. Lysinuric protein intolerance presenting as coma in a middle-aged man.

3. An unusual aminoacidopathy associated with mitochondrial encephalomyopathy.

4. Familial lysinuric protein intolerance presenting as coma in two adult siblings.

5. Oral citrulline as arginine precursor may be beneficial in sickle cell disease: early phase two results.

6. A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.

7. Skeletal manifestations of lysinuric protein intolerance. A follow-up study of 29 patients.

8. Osteoporosis in lysinuric protein intolerance.

Review 9. Biomarkers for radiation-induced small bowel epithelial damage: an emerging role for plasma Citrulline.

Review 10. Drug treatment of inborn errors of metabolism: a systematic review.