UniProtKB/Swiss-Prot : 75 Acetyl-CoA carboxylase 1 deficiency: An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. [malacards.org]

Format Definition An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. [uniprot.org]

After the perinatal problems were overcome, it became clear that she had severe brain damage, persistent myopathy, and poor growth. [nejm.org]

From NCBI Gene : Acetyl-CoA: carboxylase deficiency From UniProt : Acetyl-CoA carboxylase 1 deficiency (ACACAD): An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. [ghr.nlm.nih.gov]

disease : Preterax and Diamicron modified release controlled evaluationADVANCE試験 Action to control cardiovascular risk in diabetes studyACCORD試験 Acute-onset Type 1 Diabetes Mellitus急性発症1型糖尿病 Addison's diseaseアジソン病 Adie's tonic pupilアディー瞳孔 Adie's tonic [jds.or.jp]

One of the most striking clinical abnormalities was hypotonie myopathy. After the perinatal problems were overcome, it became clear that she had severe brain damage, persistent myopathy, and poor growth. [nejm.org]

UniProtKB/Swiss-Prot : 75 Acetyl-CoA carboxylase 1 deficiency: An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. [malacards.org]

Format Definition An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. [uniprot.org]

From NCBI Gene : Acetyl-CoA: carboxylase deficiency From UniProt : Acetyl-CoA carboxylase 1 deficiency (ACACAD): An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. [ghr.nlm.nih.gov]

Arch Neurol 46: 543–548 CrossRef PubMed Google Scholar Gahl WA, Dalakas MC, Charnas L et al. (1988) Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. [link.springer.com]

Neurogastrointestinal Encephalomyopathy 221 Leigh Syndrome and Mitochondrial Leukoencephalopathies 224 Pyruvate Carboxylase Deficiency 245 Multiple Carboxylase Deficiency 248 Cerebrotendinous Xanthomatosis 252 Cockayne Syndrome 259 Trichothiodystrophy with Photosensitivity [books.google.com]

Carboxylase Deficiency 245 Multiple Carboxylase Deficiency 248 Cerebrotendinous Xanthomatosis 252 Cockayne Syndrome 259 Trichothiodystrophy with Photosensitivity 268 PelizaeusMerzbacher Disease and Xlinked Spastic Paraplegia Type 2 272 18q Syndrome 281 Phenylketonuria [books.google.com]

German Collaborative Study on Phenylketonuria. [link.springer.com]

Paraplegia Type 2 272 18q Syndrome 281 Phenylketonuria 284 Glutaric Aciduria Type 1 294 Propionic Acidemia 300 Nonketotic Hyperglycinemia 306 Maple Syrup Urine Disease 311 3Hydroxy 3MethylglutarylCoA Lyase Deficiency 321 SjögrenLarsson Syndrome 383 Lowe [books.google.com]