(Q67521157)

English

Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus

scientific article published on 01 January 1992

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1356171%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1356171%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

1 reference

based on heuristic

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author name string

D. Chitayat

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1356171

17 September 2022

A. Balbul

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1356171

17 September 2022

V. Hani

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1356171

17 September 2022

O. A. Mamer

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1356171

17 September 2022

C. Clow

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1356171

17 September 2022

C. R. Scriver

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1356171

17 September 2022

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1356171

17 September 2022

publication date

1 January 1992

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1356171%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1356171%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

15

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1356171%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1356171%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

198-203

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1356171%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

https://scigraph.springernature.com/pub.10.1007/bf01799631

0 references

Soluble and mitochondrial forms of tyrosine aminotransferase. Relationship to human tyrosinemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intellectual deficits after transient tyrosinemia in the term neonate

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rapid gas chromatographic method for the quantitation of volatile fatty acids in urine. Propionic acid excretion in Vitamin B12 deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apparent gastrointestinal origin of cis-4-hydroxycyclohexanecarboxylic acid

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Four-hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: a new variant form of hereditary hypertyrosinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Profiles in altered metabolism. II--(omega -- 1)-hydroxyacid excretion in a case of episodic hypoglycemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oculocutaneous tyrosinosis. Report of two cases in the same family

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial tyrosinaemia with eye and skin lesions. Presentation of two cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Richner-Hanhart syndrome (tyrosinaemia-II) (report of four cases without ocular involvement).

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Richner-Hanhart syndrome and tyrosinemia type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Motor Activity in Early Life. III. Premature Babies with Neonatal Tyrosinaemia; a Pilot Study

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Richner-Hanhart's Syndrome: Ultrastructural Abnormalities of Epidermal Keratinization Indicating a Causal Relationship to High Intracellular Tyrosine Levels

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Close genetic linkage between HLA and renal glycosuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1356171

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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