Grunert S, Sass J
Orphanet J Rare Dis. 2020; 15(1):48.
PMID: 32059735
PMC: 7023732.
DOI: 10.1186/s13023-020-1319-7.
Saric A, Andreau K, Armand A, Moller I, Petit P
Front Genet. 2016; 6:359.
PMID: 26834781
PMC: 4719219.
DOI: 10.3389/fgene.2015.00359.
Puisac B, Arnedo M, Casale C, Ribate M, Castiella T, Ramos F
J Inherit Metab Dis. 2010; 33(4):405-10.
PMID: 20532825
PMC: 2903694.
DOI: 10.1007/s10545-010-9097-3.
Pie J, Casals N, Puisac B, Hegardt F
J Physiol Biochem. 2004; 59(4):311-21.
PMID: 15164951
DOI: 10.1007/BF03179889.
Coates P
Eur J Pediatr. 1994; 153(7 Suppl 1):S49-56.
PMID: 7957387
DOI: 10.1007/BF02138778.
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis.
Leupold D, Bojasch M, Jakobs C
Eur J Pediatr. 1982; 138(1):73-6.
PMID: 7075630
DOI: 10.1007/BF00442334.
An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.
Goodman S
Am J Hum Genet. 1980; 32(6):781-92.
PMID: 7004178
PMC: 1686166.
Screening for organic acidurias and amino acidopathies in newborns and children.
Chalmers R, Purkiss P, Watts R, Lawson A
J Inherit Metab Dis. 1980; 3(2):27-43.
PMID: 6777599
DOI: 10.1007/BF02312520.
Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts.
Sovik O, Sweetman L, Gibson K, Nyhan W
Am J Hum Genet. 1984; 36(4):791-801.
PMID: 6475954
PMC: 1684482.
Prenatal diagnosis of the organic acidurias.
Sweetman L
J Inherit Metab Dis. 1984; 7 Suppl 1:18-22.
PMID: 6434838
DOI: 10.1007/BF03047368.
3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review.
Wysocki S, Hahnel R
J Inherit Metab Dis. 1986; 9(3):225-33.
PMID: 3099065
DOI: 10.1007/BF01799652.
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.
Gibson K, Breuer J, Nyhan W
Eur J Pediatr. 1988; 148(3):180-6.
PMID: 3063529
DOI: 10.1007/BF00441397.
3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.
Lehnert W, Scharf J, Wendel U
Eur J Pediatr. 1985; 143(4):301-3.
PMID: 2580710
DOI: 10.1007/BF00442306.
Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villi.
Chalmers R, Tracey B, Mistry J, Stacey T, McFadyen I
J Inherit Metab Dis. 1989; 12(3):286-92.
PMID: 2482386
DOI: 10.1007/BF01799219.
3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction.
Dasouki M, Buchanan D, Mercer N, Gibson K, Thoene J
J Inherit Metab Dis. 1987; 10(2):142-6.
PMID: 2443756
DOI: 10.1007/BF01800039.
Dizygotic twins with 3-hydroxy-3-methylglutaric aciduria; unusual presentation, family studies and dietary management.
Stacey T, De Sousa C, Tracey B, Whitelaw A, Mistry J, Timbrell P
Eur J Pediatr. 1985; 144(2):177-81.
PMID: 2412823
DOI: 10.1007/BF00451909.