Literature DB >> 17948450

Studies of Alcaptonuria: Inheritance of 47 Cases in Eight Highly Inter-related Dominican Kindreds.

R A Milch.   

Abstract

Entities:  

Year:  1960        PMID： 17948450      PMCID： PMC1932065     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  8 in total

1.  Alkaptonuria: report of 12 cases.

Authors:  W J MARTIN; L O UNDERDAHL; D R MATHIESON; D G PUGH
Journal:  Ann Intern Med       Date:  1955-05       Impact factor: 25.391

2.  A preliminary note of 47 cases of alcaptonuria occurring in seven interrelated Dominican families, with an additional comment on two previously reported pedigress.

Authors:  R A MILCH
Journal:  Acta Genet Stat Med       Date:  1959

3.  Direct inheritance of alcaptonuria.

Authors:  R A MILCH
Journal:  Metabolism       Date:  1955-11       Impact factor: 8.694

4.  Studies on ochronosis. I. Report of case with death from ochronotic nephrosis.

Authors:  J A COOPER; T J MORAN
Journal:  AMA Arch Pathol       Date:  1957-07

5.  Alkaptonuria.

Authors:  S SITAJ; T URBANEK
Journal:  Rev Czech Med       Date:  1956

6.  Dominant inheritance of alcaptonuria.

Authors:  R A MILCH; H MILCH
Journal:  Acta Genet Stat Med       Date:  1957

7.  Sir Archibald Garrod's inborn errors of metabolism. II. Alkaptonuria.

Authors:  W E KNOX
Journal:  Am J Hum Genet       Date:  1958-06       Impact factor: 11.025

8.  Alcaptonuria and ochronosis; with a report of three patients and metabolic studies in two.

Authors:  M GALDSTON; J M STEELE; K DOBRINER
Journal:  Am J Med       Date:  1952-10       Impact factor: 4.965
  8 in total
  17 in total

1.  Identification of forty cases with alkaptonuria in one village in Jordan.

Authors:  Mohammed Al-Sbou; Nesrin Mwafi; Mohammad Abu Lubad
Journal:  Rheumatol Int       Date:  2011-11-16       Impact factor: 2.631

2.  Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

Authors:  Andrea Zatkova; Tatiana Sedlackova; Jan Radvansky; Helena Polakova; Martina Nemethova; Robert Aquaron; Ismail Dursun; Jeannette L Usher; Ludevit Kadasi
Journal:  JIMD Rep       Date:  2011-10-20

3.  An update on molecular genetics of Alkaptonuria (AKU).

Authors:  Andrea Zatkova
Journal:  J Inherit Metab Dis       Date:  2011-07-01       Impact factor: 4.982

4.  Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment.

Authors:  A S Davison; B Norman; A M Milan; A T Hughes; M Khedr; J Rovensky; J A Gallagher; L R Ranganath
Journal:  JIMD Rep       Date:  2017-11-17

5.  Nine cases of Alkaptonuria in one family in southern Jordan.

Authors:  Mohammed Al-Sbou; Nesrin Mwafi
Journal:  Rheumatol Int       Date:  2010-12-03       Impact factor: 2.631

Review 6.  Alkaptonuria in France: past experience and lessons for the future.

Authors:  Robert Raphael Aquaron
Journal:  J Inherit Metab Dis       Date:  2011-09-17       Impact factor: 4.982

7.  Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone.

Authors:  A S Davison; B P Norman; E A Smith; J Devine; J Usher; A T Hughes; M Khedr; A M Milan; J A Gallagher; L R Ranganath
Journal:  JIMD Rep       Date:  2018-05-13

Review 8.  Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.

Authors:  Charles R Scriver
Journal:  J Inherit Metab Dis       Date:  2008-10-12       Impact factor: 4.982

Review 9.  Acute fatal metabolic complications in alkaptonuria.

Authors:  A S Davison; A M Milan; J A Gallagher; L R Ranganath
Journal:  J Inherit Metab Dis       Date:  2015-11-23       Impact factor: 4.982

10.  Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.

Authors:  O Uyguner; E Goicoechea de Jorge; A Cefle; T Baykal; H Kayserili; K Cefle; M Demirkol; M Yuksel-Apak; S Rodriguez de Córdoba; B Wollnik
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
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