Results 111 to 120 of about 883 (149)

Social outcome in adults with maple syrup urine disease (MSUD)

Journal of Inherited Metabolic Disease, 2007
SummaryBackground: In MSUD, dietary treatment aims at the protection of the brain from functional disturbances and structural damage by keeping the branched‐chain amino acids in plasma permanently in the near‐normal range. Unfortunately, delay in effective treatment of the neonatal manifestation and poor long‐term metabolic control are common in MSUD ...
E, Simon, M, Schwarz, U, Wendel
openaire   +2 more sources

The diagnosis and management of MSUD in Saudi Arabia by using two different methods

Indian Journal of Pediatrics, 1990
Plasma amino acid concentrations were measured in Maple Syrup Urine Disease (MSUD) infants using reversed phase high performance liquid chromatography (HPLC). The technique involved an automated data acquisition system and phenylisothiocyanate (PITC) pre-column derivatization.
Pinar T Ozand, P T Ozand
exaly   +3 more sources

?????????????????? ???????????????? ??. ??. ???????????????????? ???????????????? ?????????????????? ?????????????????????????? ???????????????????????? ?????????? ??. ??. ?????????????????? (MSUD). ????????????????: ?????????????????? ??. ??., ???????????????????? ??. ??., ?????????????????? ??. ??. ???????????? ???????????????? ?????? (MSUD). ???????????????? ???????????????? ??.??. ????????????????????

2021
???????????????? ???? ??????????: ?????????????????? ??.??., ???????????????????? ??.??., ?????????????????? ??.??. ???????????? ???????????????? ?????? (MSUD). ???????????????? ???????????????? ??.??. ????????????????????. ??? ??????????: ???????????? ??????????????, 2013. ??? 331 ??.
openaire   +1 more source

Investigation of inflammatory profile in MSUD patients: benefit of L-carnitine supplementation

Metabolic Brain Disease, 2015
Maple Syrup Urine Disease (MSUD) is a metabolic disorder caused by a severe deficiency of the branched-chain α-keto acid dehydrogenase complex activity which leads to the accumulation of branched-chain amino acids (BCAA) leucine (Leu), isoleucine and valine and their respective α-keto-acids in body fluids.
Caroline Paula, Mescka, Gilian, Guerreiro, Bruna, Donida, Desirèe, Marchetti, Carlos Alberto Yasin, Wayhs, Graziela Schimitt, Ribas, Adriana Simon, Coitinho, Moacir, Wajner, Carlos Severo, Dutra-Filho, Carmen Regla, Vargas   +9 more
openaire   +2 more sources

???????????????? ???????????????? ??. ??. ?????????????????? ?? ???????????? ???????????????? ?????????????????? ?????????????????????????? ???????????????????????? ????. ??. ??. ?????????????????? (MSUD)

2021
???????????????????? ???? ??????????: ??.??. ??????????????????, ??.??. ????????????????????, ??.??. ????????????????????, ??.??. ??????????????????, ??.??. ??????????????????. ?????????????? ???????????????????? ?????? (MSUD). ???????????????????? ?????????????????? ??.??. ????????????????????????. ??? ????????????: ???????????????? ???????????????????
openaire   +1 more source

Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification

Molecular Genetics and Metabolism, 2005
Maple syrup urine disease (MSUD) is a genetic metabolic disorder resulting from the defective activity of branched-chain 2-ketoacid dehydrogenase complex. Due to the metabolic block, high concentrations of the branched-chain amino acids (BCAA) leucine, valine, isoleucine, and allo-isoleucine as well as their corresponding branched-chain 2-keto acids ...
K, Heldt, B, Schwahn, I, Marquardt, M, Grotzke, U, Wendel   +4 more
exaly   +3 more sources

The interplay of psychosis and non‐compliance with fatal outcome in an adult with MSUD

American Journal of Medical Genetics Part A
AbstractSignificant progress has been achieved in enhancing early outcomes for individuals with maple syrup urine disease (MSUD), a rare metabolic disorder that leads to the accumulation of branched‐chain amino acids leucine, isoleucine, and valine, where leucine is known as the primary neurotoxic metabolite.
Nadia Falah, Surekha Pendyal, Cina Sasannejad, Allison Gibson, Yu Lin Lee, Marie McDonald, Dwight Koeberl   +6 more
openaire   +2 more sources

Ahornsiruperkrankung (Maple Syrup Urine Disease; MSUD), 1954

2020
Am Anfang der chemischen Analytik von Stoffwechselerkrankungen standen die Sinneseindrucke, die Substanzen vermittelten, d. h. welche Farbe sie hatten, wie sie rochen und wie sie schmeckten. Erst durch diese Einsicht werden Bezeichnungen wie z. B. Diabetes mellitus (der Honigschmeckende) und Diabetes insipidus (der Geschmacklose) nachvollziehbar.
openaire   +1 more source

Maple syrup urine disease (MSUD)—Clinical profile of 47 Filipino patients

Journal of Inherited Metabolic Disease, 2008
SummaryMaple syrup urine disease (MSUD) is a very rare disorder of branched‐chain amino acid metabolism. However, it is the most common inborn error of metabolism in the Philippines. We present a retrospective review of 21 patients diagnosed with MSUD between 1999 and 2004.
J Y, Lee, M A, Chiong, S C, Estrada, E M, Cutiongco-De la Paz, C L T, Silao, C D, Padilla   +5 more
openaire   +2 more sources

[Gene analysis of maple syrup urine disease (MSUD)].

Rinsho byori. The Japanese journal of clinical pathology, 1993
Maple syrup urine disease (MSUD), an autosomal recessive hereditary metabolic disorder, is due to defective oxidative decarboxylation of the branched-chain alpha-ketoacids (BCKAs) derived from transamination of the three branched-chain amino acids, valine, leucine and isoleucine. The oxidative decarboxylation of three BCKAs is catalysed by the branched-
H, Mitsubuchi, Y, Nobukuni, Y, Hayashida, K, Ohta, Y, Indo, I, Akaboshi, F, Endo, I, Matsuda   +7 more
openaire   +1 more source