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Literature DB >> 5763606

Hereditary tyrosinemia in a French Canadian isolate.

C Laberge.

Abstract

Entities: Disease

Mesh：

Substances：
Tyrosine

Year: 1969 PMID： 5763606 PMCID： PMC1706398

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

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15 in total

1. DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.

Authors: V A MCKUSICK; J A EGELAND; R ELDRIDGE; D E KRUSEN
Journal: Bull Johns Hopkins Hosp Date: 1964-10

2. FAMILIAL HEPATIC CIRRHOSIS IN INFANCY.

Authors: S VESTERMARK; H L WULF; B ZACHAU-CHRISTIANSEN
Journal: Dan Med Bull Date: 1964-03

3. Segregation of the Ellis-van Creveld Syndrome as Analyzed by the First Appearance Method.

Authors: C C Li
Journal: Am J Hum Genet Date: 1965-07 Impact factor: 11.025

4. The enzymatic deficiency in tyrosinemia.

Authors: B N La Du
Journal: Am J Dis Child Date: 1967-01

5. A simple method of estimating the segregation ratio under complete ascertainment.

Authors: C C Li; N Mantel
Journal: Am J Hum Genet Date: 1968-01 Impact factor: 11.025

6. Tyrosinosis. A study of 6 cases.

Authors: S Halvorsen; H Pande; A C Loken; L R Gjessing
Journal: Arch Dis Child Date: 1966-06 Impact factor: 3.791

7. The phenotypic manifestations of hereditary tyrosinemia and tyrosyluria: a hypothesis.

Authors: C R Scriver
Journal: Can Med Assoc J Date: 1967-10-28 Impact factor: 8.262

8. Experience with 37 infants with tyrosinemia.

Authors: J Larochelle; A Mortezai; M Belanger; M Tremblay; J C Claveau; G Aubin
Journal: Can Med Assoc J Date: 1967-10-28 Impact factor: 8.262

9. Hereditary tyrosinemia and tyrosyluria: clinical report of four patients.

Authors: C R Scriver; M Silverberg; C L Clow
Journal: Can Med Assoc J Date: 1967-10-28 Impact factor: 8.262

10. Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate.

Authors: C R Scriver; J Larochelle; M Silverberg
Journal: Am J Dis Child Date: 1967-01

13 in total

1. [Demographic reproduction and genetic transmission in the north-east of the province of Quebec (18th-20th centuries)].

Authors: G Bouchard; C Laberge; C R Scriver
Journal: Eur J Popul Date: 1988-09

2. Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn.

Authors: G Dunkel; C R Scriver; C L Clow; S Melançon; B Lemieux; A Grenier; C Laberge
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

Review 3. Genetical theory and the "inborn errors of metabolism".

Authors: H Harris
Journal: Br Med J Date: 1970-02-07

4. Regionalization in hereditary IgA nephropathy.

Authors: R J Wyatt; M L Rivas; B A Julian; P A Quiggins; S Y Woodford; R G McMorrow; R W Baehler
Journal: Am J Hum Genet Date: 1987-07 Impact factor: 11.025

5. Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

Authors: D Phaneuf; M Lambert; R Laframboise; G Mitchell; F Lettre; R M Tanguay
Journal: J Clin Invest Date: 1992-10 Impact factor: 14.808

6. Neonatal hypertyrosinemia and evidence for deficiency of ascorbic acid in Arctic and subarctic peoples.

Authors: C L Clow; C Laberge; C R Scriver
Journal: Can Med Assoc J Date: 1975-10-04 Impact factor: 8.262

Review 7. Current strategies for the treatment of hereditary tyrosinemia type I.

Authors: Merja Ashorn; Sari Pitkänen; Matti K Salo; Markku Heikinheimo
Journal: Paediatr Drugs Date: 2006 Impact factor: 3.022

8. Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.

Authors: J K Ploos van Amstel; A J Bergman; E A van Beurden; J F Roijers; T Peelen; I E van den Berg; B T Poll-The; E A Kvittingen; R Berger
Journal: Hum Genet Date: 1996-01 Impact factor: 4.132

9. Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.

Authors: S I Demers; D Phaneuf; R M Tanguay
Journal: Am J Hum Genet Date: 1994-08 Impact factor: 11.025

10. Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).

Authors: R M Tanguay; J P Valet; A Lescault; J L Duband; C Laberge; F Lettre; M Plante
Journal: Am J Hum Genet Date: 1990-08 Impact factor: 11.025