scholarly journals 1276 MEDIUM CHAIN ACYL CoA DEHYDROGENASE DEFICIENCY: EVIDENCE FOR AUTOSOMAL RECESSIVE INHERITANCE AND A URINARY MARKER FOR SCREENING

1985 ◽  
Vol 19 (4) ◽  
pp. 323A-323A
Author(s):  
Bruce E Wilson
Keyword(s):  
Autosomal Recessive ◽  
Dehydrogenase Deficiency ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Urinary Marker ◽  
Medium Chain ◽  
Chain Acyl

First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
CuiLi Liang ◽  
MinYan Jiang ◽  
HuiYing Sheng ◽  
YanNa Cai ◽  
DongYan Wu ◽  
...  
Keyword(s):  
Case Report ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
First Case ◽  
Mitochondrial Fatty Acid ◽  
Chain Acyl ◽  
Acyl Coenzyme A

AbstractMedium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an autosomal recessive inborn error of mitochondrial fatty acid β-oxidation, caused by mutations in the

Pelizaeus Merzbacher phenotype with epilepsy and autosomal recessive inheritance in two siblings

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
U Gaiser ◽  
J Neuberger ◽  
E Regel ◽  
R Emmert ◽  
M Ries
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance

TYPICAL CASES OF ISOLATED GROWTH HORMONE DEFICIENCY WITH AUTOSOMAL RECESSIVE INHERITANCE

1970 ◽  
Vol 63 (4) ◽  
pp. 618-624 ◽  
Author(s):  
Y. Kumahara ◽  
Y. Okada ◽  
K. Miyai ◽  
H. Iwatsubo
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Adult Subject ◽  
Hormone Deficiency ◽  
Recessive Inheritance ◽  
Arginine Infusion ◽  
Isolated Growth Hormone Deficiency ◽  
Male Dwarf

ABSTRACT A 25-year-old male dwarf and his sister, a 31-year-old woman were investigated. Their respective heights were 114 and 97 cm with proportional statures. Their bone ages were that found in the adult subject. Thyroid functions and metyrapone test were normal and the total urinary gonadotrophin was determined in both cases. HGH secretion was not stimulated by insulin-induced hypoglycaemia, arginine infusion or exercise. Their parents and six other siblings were normal in height. The two patients were therefore assumed to be suffering from an isolated growth hormone deficiency with autosomal recessive inheritance.

scholarly journals Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.

1991 ◽  
Vol 28 (4) ◽  
pp. 277-279 ◽  
Author(s):  
J C de Almeida ◽  
D F Reis ◽  
J Llerena Junior ◽  
J Barbosa Neto ◽  
R L Pontes ◽  
...  
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Peters Anomaly

Delayed diagnosis of fatal medium-chain acyl-CoA dehydrogenase deficiency in a child

1999 ◽  
Vol 15 (6) ◽  
pp. 399-401 ◽  
Author(s):  
AVINASH K. SHETTY ◽  
RANDALL D. CRAVER ◽  
JUDITH A. HARRIS ◽  
EBERHARD SCHMIDT-SOMMERFELD
Keyword(s):  
Dehydrogenase Deficiency ◽  
Delayed Diagnosis ◽  
Medium Chain ◽  
Chain Acyl

A fatal neonatal case of medium-chain acyl-coenzyme a dehydrogenase deficiency with homozygous A→G985 transition

1992 ◽  
Vol 121 (6) ◽  
pp. 965-968 ◽  
Author(s):  
Kin-Chuen Leung ◽  
Judith W. Hammond ◽  
Shilpi Chabra ◽  
Kevin H. Carpenter ◽  
Mary Potter ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
Chain Acyl ◽  
Acyl Coenzyme A

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

The Lancet ◽  
2002 ◽  
Vol 359 (9306) ◽  
pp. 627-628 ◽  
Author(s):  
Bridget Wilcken ◽  
Kevin Carpenter ◽  
Veronica Wiley
Keyword(s):  
Neonatal Screening ◽  
Dehydrogenase Deficiency ◽  
Medium Chain ◽  
Chain Acyl
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