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IssueJournal of Inherited Metabolic Disease: Volume 19, Issue 1
3-95January 1996
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Annotation
Articles
no
International database of tetrahydrobiopterin deficiencies
- Pages: 8-14
- First Published: 26 October 1995
no
PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population
- Pages: 15-24
- First Published: 06 January 1995
no
Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria
- Pages: 25-30
- First Published: 24 January 1995
no
Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families
- Pages: 31-42
- First Published: 15 August 1995
no
Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome
- Pages: 43-50
- First Published: 06 July 1995
no
Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease
- Pages: 51-58
- First Published: 06 July 1995
no
Detection of defective 3β-hydroxysterol Δ7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome
- Pages: 59-64
- First Published: 15 June 1995
no
Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine
- Pages: 65-75
- First Published: 23 May 1995
no
Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin
- Pages: 76-83
- First Published: 18 September 1995
Case Report
no
Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes
- Pages: 84-85
- First Published: January 1996
no
Isovaleric acidemia appearing as diabetic ketoacidosis
- Pages: 85-86
- First Published: January 1996
no
Sanfilippo disease (mucopolysaccharidosis type III) presenting as transient renal tubular dysfunction
- Pages: 87-88
- First Published: 01 January 1996
Short Report
no
Renal handling of methylmalonic acid in a uraemic patient with vitamin B12-unresponsive methylmalonic acidaemia
- Pages: 90-91
- First Published: January 1996
no
Antiatherogenic lipid profile in galactosaemic patients on soybean diets
- Pages: 91-92
- First Published: January 1996
no
Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons
- Pages: 93-94
- First Published: January 1996
no
A new complementation assay for peroxisome-deficient cell lines
- Pages: 94-95
- First Published: January 1996
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