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Literature DB >> 14246065

THE OCULO-CEREBRO-RENAL SYNDROME OF LOWE.

W RICHARDS, G N DONNELL, W A WILSON, D STOWENS, T PERRY.

Abstract

Keywords: ALBUMINURIA; AMINOACIDURIA, RENAL; AMMONIUM CHLORIDE; BICARBONATES; BLOOD; BLOOD PROTEIN ELECTROPHORESIS; CATARACT; CHILD; CRYPTORCHISM; GENETICS, HUMAN; GLAUCOMA; GLYCOSURIA; INFANT; KIDNEY DISEASES; KIDNEY FUNCTION TESTS; MENTAL RETARDATION; METABOLISM, INBORN ERRORS; NEUROLOGIC MANIFESTATIONS; OSTEOPOROSIS; URINE

Mesh：

Substances：

Year: 1965 PMID： 14246065 DOI： 10.1001/archpedi.1965.02090020187001

Source DB: PubMed Journal: Am J Dis Child ISSN： 0002-922X

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Cited

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11 in total

1. An index of syndromes and their anaesthetic implications.

Authors: A E Jones; D A Pelton
Journal: Can Anaesth Soc J Date: 1976-03

2. Aminoaciduria and lens opacity formation.

Authors: R McGuinness; R A Saunders
Journal: Br J Ophthalmol Date: 1968-01 Impact factor: 4.638

Review 3. X linked mental retardation.

Authors: I A Glass
Journal: J Med Genet Date: 1991-06 Impact factor: 6.318

Review 4. The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.

Authors: Maria Antonietta De Matteis; Leopoldo Staiano; Francesco Emma; Olivier Devuyst
Journal: Nat Rev Nephrol Date: 2017-07-03 Impact factor: 28.314

Review 5. Phosphoinositides in the kidney.

Authors: Leopoldo Staiano; Maria Antonietta De Matteis
Journal: J Lipid Res Date: 2018-10-12 Impact factor: 5.922

Review 10. Lowe syndrome.

Authors: Mario Loi
Journal: Orphanet J Rare Dis Date: 2006-05-18 Impact factor: 4.123

THE OCULO-CEREBRO-RENAL SYNDROME OF LOWE.

1. An index of syndromes and their anaesthetic implications.

2. Aminoaciduria and lens opacity formation.

Review 3. X linked mental retardation.

Review 4. The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.

Review 5. Phosphoinositides in the kidney.

6. Oculo-cerebro-renal syndrome: failure to demonstrate specific neuropathological abnormalities in four cases.

7. Management of cataract surgery in Lowe syndrome.

8. Homozygous cystinuria and the oculo-cerebro-renal dystrophy of Lowe in same family.

9. Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome.

Review 10. Lowe syndrome.