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Items: 1 to 20 of 93

1.

Hydroxyprolinemia: comparison of a patient and her unaffected twin sister.

Kim SZ, Varvogli L, Waisbren SE, Levy HL.

J Pediatr. 1997 Mar;130(3):437-41.

PMID:
9063421
2.

Hydroxyproline metabolism in two sisters with hydroxyprolinemia.

Roesel RA, Blankenship PR, Lynch WR, Coryell ME, Thevaos TG, Hall WK.

Hum Hered. 1979;29(6):364-70.

PMID:
511192
3.

Hydroxyprolinemia.

Swarna M, Rao DN, Kumari CK, Reddy PP.

Indian J Pediatr. 1989 Jul-Aug;56(4):527-8. No abstract available.

PMID:
2633993
4.

[Hyperprolinemia and hydroxyprolinemia].

Berger R, Broyer M.

Presse Med. 1969 May 28;77(26):957-8. French. No abstract available.

PMID:
5795142
5.

Hydroxyprolinemia: an apparently harmless familial metabolic disorder.

Pelkonen R, Kivirikko KI.

N Engl J Med. 1970 Aug 27;283(9):451-6. No abstract available.

PMID:
4393577
6.

HYDROXYPROLINEMIA. II. A RARE METABOLIC DISEASE DUE TO A DEFICIENCY OF THE ENZYME "HYDROXYPROLINE OXIDASE".

EFRON ML, BIXBY EM, PRYLES CV.

N Engl J Med. 1965 Jun 24;272:1299-309. No abstract available.

PMID:
14299138
7.

Hydroxyprolinemia as an illustration of nonessential enzymes in man.

Prockop DJ.

N Engl J Med. 1970 Aug 27;283(9):487. No abstract available.

PMID:
5434118
8.
9.

[Hydroxyprolinemia].

Endo F.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):158-9. Review. Japanese. No abstract available.

PMID:
9590015
10.

[Familial encephalopathy, imino-glycinuria, hydroxyprolinemia].

Ghisolfi J, Augier D, Fabre J, Delsol G, Régnier C.

Arch Fr Pediatr. 1972 Apr;29(4):336-7. French. No abstract available.

PMID:
5053204
11.

Hydroxyprolinemia. 3. The origin of free hydroxyproline in hydroxyprolinemia. Collagen turnover. Evidence for biosynthetic pathway in man.

Efron ML, Bixby EM, Hockaday TD, Smith LH Jr, Meshorer E.

Biochim Biophys Acta. 1968 Sep 3;165(2):238-50. No abstract available.

PMID:
5683524
12.

Hydroxyprolinemia: a case report.

Rama Rao BS, Subhash MN, Narayanan HS.

Indian Pediatr. 1974 Dec;11(12):829-30. No abstract available.

PMID:
4448548
13.

Genetic cause and prevalence of hydroxyprolinemia.

Staufner C, Haack TB, Feyh P, Gramer G, Raga DE, Terrile C, Sauer S, Okun JG, Fang-Hoffmann J, Mayatepek E, Prokisch H, Hoffmann GF, Kölker S.

J Inherit Metab Dis. 2016 Sep;39(5):625-32. doi: 10.1007/s10545-016-9940-2. Epub 2016 May 2.

PMID:
27139199
14.

Amino acid disorders in mental retardation: a two-decade study from Andhra Pradesh.

Swarna M, Jyothy A, Usha Rani P, Reddy PP.

Biochem Genet. 2004 Apr;42(3-4):85-98.

PMID:
15168722
15.
16.

High cognitive outcome in an adolescent with mut- methylmalonic acidemia.

Varvogli L, Repetto GM, Waisbren SE, Levy HL.

Am J Med Genet. 2000 Apr 3;96(2):192-5. Review.

PMID:
10893496
17.

Rett syndrome: epidemiology and nosology--progress in knowledge 1986--a conference communication.

Hagberg B, Witt-Engerström I.

Brain Dev. 1987;9(5):451-7. Review.

PMID:
3324795
18.

Cognitive functioning in two sisters with carbamyl phosphate synthetase I deficiency.

Sassaman EA, Zartler AS, Mulick JA.

J Pediatr Psychol. 1981 Jun;6(2):171-5. No abstract available.

PMID:
7252721
19.

Congenital renal dysplasia, retinal dysplasia and mental retardation associated with hyperprolinuria and hyper-oh-prolinuria.

Rokkones T, Loken AC.

Acta Paediatr Scand. 1968 May;57(3):225-9. No abstract available.

PMID:
5706039
20.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991

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