ライフサイエンスコーパス: maple syrup urine disease

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1 njury and potential treatment strategies for maple syrup urine disease.

2 tress shown to cause encephalopathy in human maple syrup urine disease.

3 chain amino acid metabolism resembling human maple syrup urine disease.

4 patocytes from patients and a mouse model of maple syrup urine disease.

5 henylketonuria, branched chain ketoaciduria (maple syrup urine disease) and homocystinuria, which are

6 t to prevent encephalopathy in children with maple syrup urine disease during catabolic stress.

7 cine, isoleucine, and valine are elevated in maple syrup urine disease, heart failure, obesity, and t

8 metabolic correction of a mouse intermediate maple syrup urine disease (iMSUD) model after allogenic

9 two converging mechanisms of brain injury in maple syrup urine disease including: (i) neurotransmitte

10 Maple syrup urine disease is caused by deficiency in the

11 ially delayed encephalopathy in intermediate maple syrup urine disease mice placed on a high protein

12 toacids have been recognized as the cause of maple syrup urine disease (MSUD) for decades, treatment

13 Maple syrup urine disease (MSUD) is a metabolic disorder

14 Maple syrup urine disease (MSUD) is a rare metabolic dis

15 Maple syrup urine disease (MSUD) is a rare, autosomal re

16 Maple Syrup Urine Disease (MSUD) is an inherited disorde

17 Maple syrup urine disease (MSUD) is an inherited disorde

18 Maple syrup urine disease (MSUD) is an inherited disorde

19 Maple syrup urine disease (MSUD) or branched-chain alpha

20 that natural mutations of these residues in maple syrup urine disease (MSUD) patients (R114W-alpha a

21 Maple syrup urine disease (MSUD) results from mutations

22 Untreated maple syrup urine disease (MSUD) results in mental and p

23 intermittent or intermediate types of human maple syrup urine disease (MSUD), a hereditary disorder

24 and cause multiple human diseases including maple syrup urine disease (MSUD), autism, and other rela

25 determined RBC UDPgalactose in patients with maple syrup urine disease (MSUD), phenylketonuria (PKU),

26 with classic and variant late-onset forms of maple syrup urine disease (MSUD).

27 The nine E1alpha maple syrup urine disease mutants studied showed aberran

28 roach to mitigate assembly defects caused by maple syrup urine disease mutations.

29 orleucine to heterozygous mothers of classic maple syrup urine disease pups reduced branched-chain am

30 In patients with type IA maple syrup urine disease, the E1alpha subunit is affect

31 A child with maple syrup urine disease type 2 (MSUD2) was found to be

32 ped mouse models of classic and intermediate maple syrup urine disease, we assessed biochemical, beha

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