Genetic-Metabolic Considerations in the Sick Neonate (Q39772163)

14 September 2017

1 reference

title

Genetic-Metabolic Considerations in the Sick Neonate (English)

1 reference

https://api.crossref.org/works/10.1016/S0031-3955(16)33599-4

26 June 2022

author name string

K. A. Aleck

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A358106

26 June 2022

L. J. Shapiro

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A358106

26 June 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=358106

26 June 2022

publication date

1 August 1978

1 reference

full work available at URL

14 September 2017

https://api.elsevier.com/content/article/PII:S0031395516335994?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0031-3955(16)33599-4

https://api.elsevier.com/content/article/PII:S0031395516335994?httpAccept=text/plain

26 June 2022

1 reference

https://api.crossref.org/works/10.1016/S0031-3955(16)33599-4

Pediatric Clinics of North America

26 June 2022

published in

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14 September 2017

volume

25

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14 September 2017

issue

3

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14 September 2017

page(s)

431-451

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A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.

14 September 2017

cites work

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Metabolism of Glycine in the Nonketotic Form of Hyperglycinemia

6 April 2023

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A case of congenital cirrhosis of the liver with renal tubular defects akin to those in the Fanconi syndrome

6 April 2023

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Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.

6 April 2023

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Biotin-responsive propionicacidaemia.

6 April 2023

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A defect in pyruvate decarboxylase in a child with an intermittent movement disorder

6 April 2023

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An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis

6 April 2023

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Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males

6 April 2023

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Argininosuccinic aciduria. Neonatal variant with rapid fatal course

6 April 2023

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CONGENITAL LYSINE INTOLERANCE WITH PERIODIC AMMONIA INTOXICATION

6 April 2023

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HEREDITARY FRUCTOSE INTOLERANCE

6 April 2023

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Menkes' kinky hair disease: further definition of the defect in copper transport

6 April 2023

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Preliminary report on a mass screening program for neonatal hypothyroidism

6 April 2023

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The spectrum and diagnosis of acid maltase deficiency.

6 April 2023

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Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis

6 April 2023

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Placental sulfatase deficiency

6 April 2023

32

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Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase

6 April 2023

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Primary hypomagnesaemia with secondary hypocalcaemia in an infant

6 April 2023

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Essential fructosuria and hereditary fructose intolerance

6 April 2023

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6 April 2023

sarcosinemia

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Biotin-responsive beta-methylcrotonylglycinuria

6 April 2023

42

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Glutaric aciduria; A “new” disorder of amino acid metabolism

6 April 2023

44

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Hypoglycemia and maple syrup urine disease: defective gluconeogenesis

6 April 2023

47

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alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

6 April 2023

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6 April 2023

Galactosemia

49

1 reference

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Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage

6 April 2023

50

1 reference

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Propionicacidemia, a New Inborn Error of Metabolism

6 April 2023

51

1 reference

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Leigh's encephalomyelopathy: an inborn error of gluconeogenesis

6 April 2023

52

1 reference

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The glycogen storage diseases

6 April 2023

54

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Defective propionate carboxylation in ketotic hyperglycinaemia

6 April 2023

57

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6 April 2023

Inherited hypothyroidism

59

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Profiling of human body fluids in healthy and diseased states using gas chromatography and mass spectrometry, with special reference to organic acids

6 April 2023

60

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https://api.crossref.org/works/10.1016/S0031-3955(16)33599-4

Phenylketonuria due to a deficiency of dihydropteridine reductase

6 April 2023

61

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Nutritional therapy of galactosemia. Management success depends on rigid exclusion of all galactose-containing foods

6 April 2023

65

1 reference

https://api.crossref.org/works/10.1016/S0031-3955(16)33599-4

Biochemical investigations of hyperammonaemia

6 April 2023

69

1 reference

https://api.crossref.org/works/10.1016/S0031-3955(16)33599-4

Fructosaemia. Observations on seven cases.

6 April 2023

70

1 reference

https://api.crossref.org/works/10.1016/S0031-3955(16)33599-4

Aminoacidemia of prematurity. Its response to ascorbic acid

6 April 2023

71

1 reference

https://api.crossref.org/works/10.1016/S0031-3955(16)33599-4

Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy

6 April 2023

84

1 reference

https://api.crossref.org/works/10.1016/S0031-3955(16)33599-4

Neonatal tyrosinaemia: a follow-up study

6 April 2023

85

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X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase

6 April 2023

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1 reference

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Steroid sulfatase deficiency

6 April 2023

93

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https://api.crossref.org/works/10.1016/S0031-3955(16)33599-4

Some disturbances of erythrocyte metabolism in galactosaemia

6 April 2023

94

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Vitamin-responsive inborn errors of metabolism

6 April 2023

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Thiamine-responsive maple-syrup-urine disease

6 April 2023

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Congenital hyperammonemic syndromes

6 April 2023

104

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Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism

6 April 2023

105

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Galactosemia Screening of Newborns in Massachusetts

6 April 2023

108

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An inborn error of metabolism with the urinary excretion of alpha-hydroxy-butyric acid and phenylpyruvic acid

6 April 2023

110

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Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase

6 April 2023

113

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Hyperalaninemia with pyruvicemia in a patient suggestive of Leigh's encephalomyelopathy

6 April 2023

115

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Isovaleric acidemia: a new genetic defect of leucine metabolism

6 April 2023

116

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Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy

6 April 2023

117

1 reference

https://api.crossref.org/works/10.1016/S0031-3955(16)33599-4

Citrullinaemia with Rapidly Fatal Neonatal Course

6 April 2023

119

1 reference

https://api.crossref.org/works/10.1016/S0031-3955(16)33599-4

Idiopathic Hypervalinemia

6 April 2023

121

1 reference

https://api.crossref.org/works/10.1016/S0031-3955(16)33599-4

Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria).

6 April 2023

122

1 reference

https://api.crossref.org/works/10.1016/S0031-3955(16)33599-4

The Clinical Findings in a Patient with Nonketotic Hyperglycinemia

6 April 2023

124

1 reference

https://api.crossref.org/works/10.1016/S0031-3955(16)33599-4

6 April 2023

Identifiers

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=358106

26 June 2022

1 reference