Maple syrup urine disease variant: report on an infant. (Q53941819)

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English	Maple syrup urine disease variant: report on an infant.	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

22 May 2018

http://europepmc.org/abstract/MED/4813457

Maple syrup urine disease variant: report on an infant. (English)

1 reference

Europe PubMed Central

PubMed publication ID

22 May 2018

http://europepmc.org/abstract/MED/4813457

maple syrup urine disease

1 reference

based on heuristic

inferred from title

author name string

Koepp P

1

1 reference

Europe PubMed Central

PubMed publication ID

22 May 2018

http://europepmc.org/abstract/MED/4813457

Rybak C

2

1 reference

Europe PubMed Central

PubMed publication ID

22 May 2018

http://europepmc.org/abstract/MED/4813457

Rüdiger HW

3

1 reference

Europe PubMed Central

PubMed publication ID

22 May 2018

http://europepmc.org/abstract/MED/4813457

Wendel U

4

1 reference

Europe PubMed Central

PubMed publication ID

22 May 2018

http://europepmc.org/abstract/MED/4813457

publication date

1 February 1974

1 reference

Europe PubMed Central

PubMed publication ID

22 May 2018

http://europepmc.org/abstract/MED/4813457

Zeitschrift fur Kinderheilkunde

1 reference

Europe PubMed Central

PubMed publication ID

22 May 2018

http://europepmc.org/abstract/MED/4813457

116

1 reference

Europe PubMed Central

PubMed publication ID

22 May 2018

http://europepmc.org/abstract/MED/4813457

3

1 reference

Europe PubMed Central

PubMed publication ID

22 May 2018

http://europepmc.org/abstract/MED/4813457

177-184

1 reference

Europe PubMed Central

PubMed publication ID

22 May 2018

http://europepmc.org/abstract/MED/4813457

The gas-chromatographic diagnosis of intermittent maple syrup urine disease (branch-chain ketoaciduria)

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thiamine-responsive maple-syrup-urine disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Late-onset branched-chain ketoaciduria: (maple syrup urine disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Family with intermittent maple syrup urine disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical studies on a variant of branched chain ketoaciduria in a 19-year-old female

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

LATE MANIFESTING VARIANT OF BRANCHED-CHAIN KETOACIDURIA (MAPLE SYRUP URINE DISEASE)

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and biochemical-genetic aspects of intermittent branched-chain ketoaciduria. Report of two Scandinavian families

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maple syrup urine disease variant: Report of a case

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (BRANCHED- CHAIN KETOACIDURIA) BY THE IN VITRO STUDY OF THE PERIPHERAL LEUKOCYTE

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simplified method for the preparation of 14 C-labelled branched-chain -oxo acids

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A variant form of branched-chain keto aciduria

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https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

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Maple syrup urine disease with an intermittent relatively benign course

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

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The intermittent variant of leucinosis (study of a new case)

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzyme activity in classical and variant forms of maple syrup urine disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and biochemical observations on an apparently nonfatal variant of branched-chain ketoaciduria (maple syrup urine disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein measurement with the Folin phenol reagent

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies in maple syrup urine disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/4813457

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

22 May 2018

http://europepmc.org/abstract/MED/4813457

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