Consanguinity and inborn errors of metabolism - An early impression Prevalence and counseling

Perinatology

Volumn 10, Issue 3, 2008, Pages 75-83

  Rao, Ananth N ^a   Koch, Minakshi ^a   Kavita, J ^a   Ghosh, Sabyasachi ^a   Suresh Kumar, V ^a  

^a Multispecialty Hospital Shaw Mazumdar Medical Centre   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLUCOSIDASE; AMINO ACID; BIOTIN; CARBOHYDRATE; CARNITINE; CHYLOMICRON; GLYCINE; HIGH DENSITY LIPOPROTEIN; LEUCINE; LYSINE; N4 (BETA N ACETYLGLUCOSAMINYL)ASPARAGINASE; ORNITHINE; PROPIONIC ACID; SPHINGOLIPID; TYROSINE; VERY LOW DENSITY LIPOPROTEIN;

ADULT; AMINOACIDURIA; ARTICLE; ASPARTYLGLYCOSAMINURIA; AUTOSOMAL RECESSIVE INHERITANCE; CARDIOMYOPATHY; CARNITINE DEFICIENCY; CONSANGUINITY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME ASSAY; FANCONI RENOTUBULAR SYNDROME; FEMALE; GAS CHROMATOGRAPHY; GENETIC DISORDER; GENETIC HETEROGENEITY; GLYCOGEN STORAGE DISEASE TYPE 2; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERGLYCINEMIA; HYPERLIPOPROTEINEMIA TYPE 2; HYPERLIPOPROTEINEMIA TYPE 3; INBORN ERROR OF METABOLISM; MAJOR CLINICAL STUDY; MALE; MAPLE SYRUP URINE DISEASE; MASS SPECTROMETRY; METHYLMALONIC ACIDEMIA; PROPIONIC ACIDEMIA; RISK FACTOR; SANDHOFF DISEASE; TYROSINEMIA;

EID: 58149180320     PISSN: 09722408     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

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