Indexed keywords
MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;
ADOLESCENT;
ADULT;
ARTICLE;
AUTOSOMAL RECESSIVE INHERITANCE;
BEHAVIOR DISORDER;
CEREBRAL PALSY;
CHILD;
DEVELOPMENTAL DISORDER;
ENZYME DEFICIENCY;
FAILURE TO THRIVE;
FEMALE;
HUMAN;
INBORN ERROR OF METABOLISM;
INFANT;
MAJOR CLINICAL STUDY;
MALE;
MUSCLE HYPOTONIA;
PRIORITY JOURNAL;
SUDDEN INFANT DEATH SYNDROME;
SYMPTOMATOLOGY;
ADOLESCENT;
ADULT;
CHILD;
CHILD, PRESCHOOL;
FAILURE TO THRIVE;
FATTY ACID DESATURASES;
FEMALE;
HUMAN;
HYPOGLYCEMIA;
INFANT;
INFANT, NEWBORN;
LIPID METABOLISM, INBORN ERRORS;
MALE;
MUSCLE HYPOTONIA;
RETROSPECTIVE STUDIES;
SEIZURES;
SUPPORT, NON-U.S. GOV'T;
SUPPORT, U.S. GOV'T, P.H.S.;
2
0026047987
Heterogeneity for mutations in medium-chain acyl–coA dehydrogenase deficiency in the UK population
(1991)
Clin Genet
, vol.40
, pp. 283-286
Curtis1
Blakemore2
Engel3
5
0025302523
Early diagnosis and treatment of neonatal medium-chain acyl–coA dehydrogenase deficiency: report of two siblings
(1990)
Eur J Pediatr
, vol.149
, pp. 577-581
Catzeflis1
Bachmann2
Hale3
6
0022638172
Recognition of medium-chain acyl–coA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes
(1986)
J PEDIATR
, vol.108
, pp. 13-18
Roe1
Millington2
Maltby3
Kinnebrew4
8
0027167804
Prevalence of medium chain acyl–coenzyme: a dehydrogenase deficiency in the sudden infant death syndrome
(1993)
J PEDIATR
, vol.122
, pp. 715-718
Arens1
Gozal2
Jain3
9
0022996369
Medium-chain and long-chain acyl–coA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome
(1986)
Hepatology
, vol.6
, pp. 1270-1278
Treem1
Witzleben2
Piccoli3
10
0023917537
Neonatal onset of medium-chain acyl–coA dehydrogenase deficiency in two siblings
(1988)
Brain Dev
, vol.10
, pp. 129-134
Nobukuni1
Yokoo2
Ohtani3
11
0021053314
Medium-chain acyl–coA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels
(1983)
Pediatr Res
, vol.17
, pp. 877-884
Stanley1
Hale2
Coates3
13
0024344870
Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue
(1989)
Anal Biochem
, vol.180
, pp. 331-339
Millington1
Norwood2
Kodo3
Roe4
Inoue5
14
0022001415
Diagnostic and therapeutic implications of medium chain acylcarnitines in the medium-chain acyl–coA dehydrogenase deficiency
(1985)
Pediatr Res
, vol.19
, pp. 459-466
Roe1
Millington2
Maltby3
15
0026322069
Molecular survey of a previous mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain acyl–coA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency
(1991)
Am J Hum Genet
, vol.49
, pp. 1280-1291
Yokota1
Coates2
Hale3
Rinaldo4
Tanaka5
20
0026725051
The magnitude and origin of European-American admixture in the Gila River Indian Community of Arizona: a union of genetics and demography
(1992)
Am J Hum Genet
, vol.51
, pp. 101-110
Williams1
Knowler2
Pettitt3
21
0026560962
Frequency of medium-chain acyl–coA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome
(1992)
Pediatr Res
, vol.31
, pp. 305-307
Miller1
Brooks2
Forbes3
Insel4
25
0023714868
Hypoglycaemia in childhood diabetes. I. Clinical signs and hormonal counterregulation
(1988)
Acta Paediatr Scand
, vol.77
, pp. 542-547
Aman1
Wranne2
27
0026691376
Adrenergic mechanisms contribute to the late phase of hypoglycemic glucose counterregulation in humans by stimulating lipolysis
(1992)
J Clin Invest
, vol.89
, pp. 2005-2013
Fanelli1
De Feo2
Porcellati3
28
0026035949
Reduced neuroendocrine and symptomatic responses to subsequent hypoglycemia after 1 episode of hypoglycemia in nondiabetic humans
(1991)
Diabetes
, vol.40
, pp. 223-226
Heller1
Cryer2
30
0026592191
Intermittent hypoglycemia impairs glucose counterregulation
(1992)
Diabetes
, vol.41
, pp. 1597-1602
Widom1
Simonson2
31
0021848699
Measurement of blood cortisol and acid output in patients with duodenal ulceration and normal subjects during insulin hypoglycaemia
(1985)
Clin Sci
, vol.69
, pp. 37-40
Athow1
Sewerniak2
Barton3
Clark4
Lewin5
32
0022005583
Recent advances in diagnosis and treatment of gastrointestinal hemorrhage in infants and children
(1985)
J PEDIATR
, vol.106
, pp. 1-9
Hyams1
Leitchner2
Schwartz3
35
0020041673
Long-term consequences of Reye syndrome: a sibling-matched, controlled study of neurologic, cognitive, academic, and psychiatric function
(1982)
J PEDIATR
, vol.100
, pp. 41-46
Shaywitz1
Cohen2
Cohen3