Instructions to Authors.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 2, doi. 10.1023/A:1017462506121
- Publication type:
- Article
Works matching IS 01418955 AND DT 2002 AND VI 25 AND IP 1
Results: 14
1
2
Corrigendum.
- Published in:
- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 46, doi. 10.1023/A:1017491022051
- Publication type:
- Article
3
Incidence of Phenylketonuria in Iran Estimated from Consanguineous Marriages.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 80, doi. 10.1023/A:1015154321142
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- Publication type:
- Article
4
Nasomaxillary Hypoplasia and Severe Orofacial Clefting in a Child of a Mother with Phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 77, doi. 10.1023/A:1015102320233
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- Publication type:
- Article
5
Type II Citrullinaemia (Citrin Deficiency) in a Neonate with Hypergalactosaemia Detected by Mass Screening.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 71, doi. 10.1023/A:1015198103395
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- Publication type:
- Article
6
Tetrahydrobiopterin Responsiveness in Phenylketonuria. Two New Cases and a Review of Molecular Genetic Findings.
- Published in:
- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 65, doi. 10.1023/A:1015194002487
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- Publication type:
- Article
7
Lipid Status and Long-Chain Polyunsaturated Fatty Acid Concentrations in Adults and Adolescents with Phenylketonuria on Phenylalanine-Restricted Diet.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 56, doi. 10.1023/A:1015142001578
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- Publication type:
- Article
8
Glycolipid Analysis of Different Tissues and Cerebrospinal Fluid in Type II Gaucher Disease.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 47, doi. 10.1023/A:1015137917508
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- Publication type:
- Article
9
Diagnosis of Fructose-1,6-Bisphosphatase Deficiency Using Cultured Lymphocyte Fraction: A Secure and Noninvasive Alternative to Liver Biopsy.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 41, doi. 10.1023/A:1015129616599
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- Publication type:
- Article
10
Glu274Lys/Gly309Arg Mutation of the Tissue-Nonspecific Alkaline Phosphatase Gene in Neonatal Hypophosphatasia Associated with Convulsions.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 35, doi. 10.1023/A:1015121414782
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- Publication type:
- Article
11
D-2-Hydroxyglutaric Aciduria in a Patient with a Severe Clinical Phenotype and Unusual MRI Findings.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 28, doi. 10.1023/A:1015165212965
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- Publication type:
- Article
12
Screening for Carnitine Palmitoyltransferase II Deficiency by Tandem Mass Spectrometry.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 17, doi. 10.1023/A:1015109127986
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- Publication type:
- Article
13
Diagnostic Value of Succinate Ubiquinone Reductase Activity in the Identification of Patients with Mitochondrial DNA Depletion.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 7, doi. 10.1023/A:1015104910239
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- Publication type:
- Article
14
Plasma Lysine Concentration and Availability of 2-Ketoglutarate in Liver Mitochondria.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 1, doi. 10.1023/A:1015195009330
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- Article