(Q72528285)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6123722%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Prenatal treatment of biotin responsive multiple carboxylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6123722%20AND%20SRC:MED&resulttype=core&format=json

multiple carboxylase deficiency

27 October 2019

main subject

1 reference

inferred from title

carbon-carbon ligases

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6123722

9 August 2023

author name string

S. Packman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6123722

9 August 2023

M. J. Cowan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6123722

9 August 2023

M. S. Golbus

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6123722

9 August 2023

N. M. Caswell

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6123722

9 August 2023

L. Sweetman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6123722

9 August 2023

B. J. Burri

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6123722

9 August 2023

W. L. Nyhan

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6123722

9 August 2023

H. Baker

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6123722

9 August 2023

language of work or name

English

0 references

publication date

1 June 1982

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6123722%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

26 June 1982

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6123722

full work available at URL

9 August 2023

https://api.elsevier.com/content/article/PII:S0140673682924527?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(82)92452-7

https://api.elsevier.com/content/article/PII:S0140673682924527?httpAccept=text/plain

9 August 2023

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(82)92452-7

9 August 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6123722%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6123722%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

issue

8287

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6123722%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

page(s)

1435-1438

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6123722%20AND%20SRC:MED&resulttype=core&format=json

Biotin-responsive beta-methylcrotonylglycinuria

27 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

The identification of tiglylglycine in the urine of a child with -methylcrotonylglycinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Beta-methylcrotonic aciduria associated with lactic acidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

The neonatal form of biotin-responsive multiple carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Biotin-responsive multiple carboxylase deficiency of infantile onset

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Biotin-Responsive Carboxylase Deficiency Associated with Subnormal Plasma and Urinary Biotin

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Biotin-responsive alopecia and developmental regression

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Prenatal Therapy of a Patient with Vitamin-B12-Responsive Methylmalonic Acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

A new assay method for biotin in blood, serum, urine, and tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Vitamin profile of 174 mothers and newborns at parturition

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Serum and urinary biotin levels during treatment of holocarboxylase synthetase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Nicotinic Acid Side Effects and Toxicity: A Review

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Urinary oxalate excretion by man following ascorbic acid ingestion

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Neonatal presentation of I-cell disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Prenatal diagnosis and fetal pathology of Niemann-Pick disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Laboratory diagnosis of congenital galactosaemia at birth

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Hypergonadotropic hypogonadism in female patients with galactosemia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Hypogonadism and galactosemia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Growth and development of children with galactosemia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Long-term Follow-up of Galactosaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Brain pyruvate carboxylase and the pathophysiology of biotin-dependent diseases.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2882%2992452-7

7 January 2021

Vitamin-responsive inherited metabolic disorders

24

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(82)92452-7

Niemann-Pick disease type B: prenatal diagnosis and enzymatic and chemical studies on fetal brain and liver

9 August 2023

33

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(82)92452-7

Intellectual performance of 36 phenylketonuria patients and their nonaffected siblings

9 August 2023

40

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(82)92452-7

Intellectual assessment of 111 four-year-old children with phenylketonuria

9 August 2023

41

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(82)92452-7

9 August 2023

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6123722%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference