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Статті в журналах з теми "Methylmalonic aciduria"

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Автор: Grafiati

Опубліковано: 10 грудня 2022

Оновлено: 28 січня 2023

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1

Fowler, Brian. "Methylmalonic aciduria articles." Journal of Inherited Metabolic Disease 31, no. 1 (January 16, 2008): 4. http://dx.doi.org/10.1007/s10545-007-9980-8.

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2

Deodato, Federica, Sara Boenzi, Filippo M. Santorelli, and Carlo Dionisi-Vici. "Methylmalonic and propionic aciduria." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 142C, no. 2 (2006): 104–12. http://dx.doi.org/10.1002/ajmg.c.30090.

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3

Brass, E. P., and S. P. Stabler. "Carnitine metabolism in the vitamin B-12-deficient rat." Biochemical Journal 255, no. 1 (October 1, 1988): 153–59. http://dx.doi.org/10.1042/bj2550153.

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Анотація:

In vitamin B-12 (cobalamin) deficiency the metabolism of propionyl-CoA and methylmalonyl-CoA are inhibited secondarily to decreased L-methylmalonyl-CoA mutase activity. Production of acylcarnitines provides a mechanism for removing acyl groups and liberating CoA under conditions of impaired acyl-CoA utilization. Carnitine metabolism was studied in the vitamin B-12-deficient rat to define the relationship between alterations in acylcarnitine generation and the development of methylmalonic aciduria. Urinary excretion of methylmalonic acid was increased 200-fold in vitamin B-12-deficient rats as compared with controls. Urinary acylcarnitine excretion was increased in the vitamin B-12-deficient animals by 70%. This increase in urinary acylcarnitine excretion correlated with the degree of metabolic impairment as measured by the urinary methylmalonic acid elimination. Urinary propionylcarnitine excretion averaged 11 nmol/day in control rats and 120 nmol/day in the vitamin B-12-deficient group. The fraction of total carnitine present as short-chain acylcarnitines in the plasma and liver of vitamin B-12-deficient rats was increased as compared with controls. When the rats were fasted for 48 h, relative or absolute increases were seen in the urine, plasma, liver and skeletal-muscle acylcarnitine content of the vitamin B-12-deficient rats as compared with controls. Thus vitamin B-12 deficiency was associated with a redistribution of carnitine towards acylcarnitines. Propionylcarnitine was a significant constituent of the acylcarnitine pool in the vitamin B-12-deficient animals. The changes in carnitine metabolism were consistent with the changes in CoA metabolism known to occur with vitamin B-12 deficiency. The vitamin B-12-deficient rat provides a model system for studying carnitine metabolism in the methylmalonic acidurias.

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4

Corazza, F., D. Blum, A. Clercx, Y. Mardens, and P. Fondu. "Erythroblastopenia Associated with Methylmalonic Aciduria." Neonatology 70, no. 5 (1996): 304–10. http://dx.doi.org/10.1159/000244380.

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5

Alhaj, Safa, Mine Ozdil, Isa Ozyilmaz, Gurkan Altun, Ahmet Aydin, and Hasan Onal. "Combined methylmalonic aciduria and homocystinuria." Journal of Pediatric Neurology 06, no. 01 (July 30, 2015): 073–76. http://dx.doi.org/10.1055/s-0035-1557421.

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6

Inoue, F., N. Terada, S. Nukina, N. Kodo, A. Kinugasa, and T. Sawada. "Methylmalonic aciduria with pathological fracture." Journal of Inherited Metabolic Disease 16, no. 6 (1993): 1052–53. http://dx.doi.org/10.1007/bf00711530.

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7

MAHONEY, MAURICE J., LEON E. ROSENBERG, BENGT LNDBLAD, JOHAN WALDENSTROM, and ROLF ZETTERSTROM. "PRENATAL DIAGNOSIS OF METHYLMALONIC ACIDURIA." Acta Paediatrica 64, no. 1 (January 21, 2008): 44–48. http://dx.doi.org/10.1111/j.1651-2227.1975.tb04378.x.

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8

NAKAI, AKIO, YOUSUKE SHIGEMATSU, MASAKAZU SAITO, YOSHIHARU KIKAWA, and MASAKATSU SUDO. "Pathophysiologic Study on Methylmalonic Aciduria." Pediatric Research 30, no. 1 (July 1991): 5???10. http://dx.doi.org/10.1203/00006450-199107010-00002.

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9

Peters, Heidi L., James J. Pitt, Leonie R. Wood, Natasha J. Hamilton, Joseph P. Sarsero, and Nicole E. Buck. "Mouse Models for Methylmalonic Aciduria." PLoS ONE 7, no. 7 (July 9, 2012): e40609. http://dx.doi.org/10.1371/journal.pone.0040609.

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10

Alkhunaizi, Ahmed M., and Nouriya Al-Sannaa. "Renal Involvement in Methylmalonic Aciduria." Kidney International Reports 2, no. 5 (September 2017): 956–60. http://dx.doi.org/10.1016/j.ekir.2017.04.007.

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11

Martens, Daniëlle H. J., Jaap A. Bakker, Syb B. van der Meer, and Leo J. M. Spaapen. "Unexplained familial benign methylmalonic aciduria." European Journal of Pediatrics 161, no. 4 (March 2, 2002): 219–20. http://dx.doi.org/10.1007/s00431-002-0930-z.

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12

Barić, Ivo. "Methylmalonic aciduria: current faces of a “classical” organic aciduria." Journal of Inherited Metabolic Disease 31, no. 3 (May 30, 2008): 293–94. http://dx.doi.org/10.1007/s10545-008-9977-y.

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13

Baranov, Alexander A., Leyla S. Namasova-Baranova, Tatyana E. Borovik, Tatyana V. Bushueva, Elena A. Vishneva, Oksana V. Globa, Nataliya V. Zhurkova, et al. "Methylmalonic Aciduria in Children: Clinical Recommendations." Pediatric pharmacology 14, no. 4 (January 1, 2017): 258–71. http://dx.doi.org/10.15690/pf.v14i4.1757.

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14

Nicolescu, Alina, Daniela Blanita, Chiril Boiciuc, Victoria Hlistun, Mihaela Cristea, Dorina Rotaru, Ludmila Pinzari, et al. "Monitoring Methylmalonic Aciduria by NMR Urinomics." Molecules 25, no. 22 (November 14, 2020): 5312. http://dx.doi.org/10.3390/molecules25225312.

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Анотація:

The paper reports on monitoring methylmalonic aciduria (MMA)-specific and non-specific metabolites via NMR urinomics. Five patients have been monitored over periods of time; things involved were diet, medication and occasional episodes of failing to comply with prescribed diets. An extended dataset of targeted metabolites is presented, and correlations with the type of MMA are underlined. A survey of previous NMR studies on MMA is also presented.

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15

Ciani, Federica, Maria A. Donati, Giovanni Tulli, Giovanni M. Poggi, Elisabetta Pasquini, David S. Rosenblatt, and Enrico Zammarchi. "Lethal late onset cblB methylmalonic aciduria." Critical Care Medicine 28, no. 6 (June 2000): 2119–21. http://dx.doi.org/10.1097/00003246-200006000-00078.

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16

Saridakis, Vivian, Alexander Yakunin, Xiaohui Xu, Ponni Anandakumar, Micha Pennycooke, Jun Gu, Frederick Cheung, et al. "The Structural Basis for Methylmalonic Aciduria." Journal of Biological Chemistry 279, no. 22 (March 25, 2004): 23646–53. http://dx.doi.org/10.1074/jbc.m401395200.

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17

Honjo, Rachel S., Erasmo B. Casella, Maria A. Vieira, Débora R. Bertola, Lilian M. J. Albano, Luiz A. Oliveira, Shosuke Nomachi, et al. "Spondylocostal Dysostosis Associated with Methylmalonic Aciduria." Genetic Testing and Molecular Biomarkers 13, no. 2 (April 2009): 181–83. http://dx.doi.org/10.1089/gtmb.2008.0069.

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18

Francis, J. H., L. Rao, and R. B. Rosen. "Methylmalonic aciduria and homocystinuria-associated maculopathy." Eye 24, no. 11 (August 27, 2010): 1731–32. http://dx.doi.org/10.1038/eye.2010.115.

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19

Işikay, Sedat, Levent Temel, and Mehmet Keskin. "Imaging Findings Associated With Methylmalonic Aciduria." Pediatric Neurology 50, no. 4 (April 2014): 435–36. http://dx.doi.org/10.1016/j.pediatrneurol.2013.11.008.

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20

Penn, D., E. Schmidt-Sommerfeld, C. Jakobs, and L. L. Bieber. "Amniotic fluid propionylcarnitine in methylmalonic aciduria." Journal of Inherited Metabolic Disease 10, no. 4 (December 1987): 376–82. http://dx.doi.org/10.1007/bf01799980.

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21

van den Bergh, F. A. J. T. M., H. del Canho, and M. Duran. "Methylmalonic aciduria and sudden child death." Journal of Inherited Metabolic Disease 15, no. 6 (November 1992): 897–98. http://dx.doi.org/10.1007/bf01800229.

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22

Adjalla, Charles E., Angela R. Hosack, Brian M. Gilfix, Estelle Lamothe, Sophie Sun, Adrian Chan, Stacey Evans, Nora V. Matiaszuk, and David S. Rosenblatt. "Seven novel mutations inmut methylmalonic aciduria." Human Mutation 11, no. 4 (1998): 270–74. http://dx.doi.org/10.1002/(sici)1098-1004(1998)11:4<270::aid-humu3>3.0.co;2-t.

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23

Fowler, B., L. Giles, I. B. Sardharwalla, P. Donnai, and J. K. Clayton. "First trimester diagnosis of methylmalonic aciduria." Prenatal Diagnosis 8, no. 3 (March 1988): 207–13. http://dx.doi.org/10.1002/pd.1970080307.

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24

Gerhardt, M., E. M. Burke, I. K. Brandt, and D. W. Crabb. "Methylmalonic aciduria presenting in an adult." Journal of Inherited Metabolic Disease 14, no. 1 (January 1991): 113–14. http://dx.doi.org/10.1007/bf01804402.

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25

Iles, R. A., A. J. Hind, and R. A. Chalmers. "Use of proton nuclear magnetic resonance spectroscopy in detection and study of organic acidurias." Clinical Chemistry 31, no. 11 (November 1, 1985): 1795–801. http://dx.doi.org/10.1093/clinchem/31.11.1795.

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Анотація:

Abstract We used high-resolution proton nuclear magnetic resonance spectroscopy to detect, identify, and study the major normal and abnormal organic acid metabolites in urine from patients with propionic acidemia, methylmalonic aciduria, branched-chain ketoaciduria, isovaleric acidemia, and glutaric aciduria type I. Characteristic and diagnostic spectra were obtained at 400 MHz for each disorder in all the patients studied and neutral and basic compounds, including amino acids and acylcarnitines, were also detected. The technique is rapid (10 min) and requires small samples (0.5 mL) and no preliminary extraction or derivative preparation. We believe that it is particularly suitable for the rapid and acute diagnosis of inborn errors of metabolism, especially the organic acidurias, and for acute pediatric clinical care, when rapid monitoring of major metabolic alterations is required in a time scale suitable to influence directly and immediately the therapy of the patients concerned.

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26

Yazıcı, Havva, Ebru Canda, Hüseyin Onay, Sema Kalkan Uçar, Sara Habif, and Mahmut Çoker. "Persistent moderate methylmalonic aciduria in a patient with methylmalonyl coa epimerase deficiency." Turkish Journal of Pediatrics 64, no. 5 (2022): 946. http://dx.doi.org/10.24953/turkjped.2021.245.

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27

Sewell, A. C., J. Herwig, and H. Böhles. "A case of familial ‘benign’ methylmalonic aciduria?" Journal of Inherited Metabolic Disease 19, no. 5 (September 1996): 696–97. http://dx.doi.org/10.1007/bf01799848.

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28

Mathew, P. M., and J. A. Hamdan. "Transient diabetes mellitus in neonatal methylmalonic aciduria." Journal of Inherited Metabolic Disease 11, no. 2 (June 1988): 218–19. http://dx.doi.org/10.1007/bf01799878.

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29

Diss, Eleanor, Jay Iams, Nicholas Reed, Diane S. Roe, and Charles Roe. "Methylmalonic aciduria in pregnancy: A case report." American Journal of Obstetrics and Gynecology 172, no. 3 (March 1995): 1057–59. http://dx.doi.org/10.1016/0002-9378(95)90049-7.

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30

Thiele, J., and JM Van Raamsdonk. "Gene discovery in methylmalonic aciduria and homocystinuria." Clinical Genetics 69, no. 5 (March 6, 2006): 402–3. http://dx.doi.org/10.1111/j.1399-0004.2006.00595c.x.

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31

Chan, Randall, Leo Mascarenhas, Richard G. Boles, Nanda Kerkar, Yuri Genyk, and Rajkumar Venkatramani. "Hepatoblastoma in a patient with methylmalonic aciduria." American Journal of Medical Genetics Part A 167, no. 3 (February 18, 2015): 635–38. http://dx.doi.org/10.1002/ajmg.a.36925.

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32

Roe, Charles R., Eduard Struys, Robert M. Kok, Diane S. Roe, Robert A. Harris, and Cornelis Jakobs. "Methylmalonic Semialdehyde Dehydrogenase Deficiency: Psychomotor Delay and Methylmalonic Aciduria without Metabolic Decompensation." Molecular Genetics and Metabolism 65, no. 1 (September 1998): 35–43. http://dx.doi.org/10.1006/mgme.1998.2737.

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33

Allen, K. R., R. Khan, and D. Watson. "Use of a diode array detector in investigation of neonatal organic aciduria." Clinical Chemistry 31, no. 4 (April 1, 1985): 561–63. http://dx.doi.org/10.1093/clinchem/31.4.561.

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Анотація:

Abstract We investigated the use of a diode array detector in conjunction with isocratic cation-exchange liquid chromatography for detection of organic acids in urine. The spectra and retention times of abnormal peaks found on chromatography of urine from patients with methylmalonic aciduria, maple syrup urine disease, and lactic aciduria were recorded and compared with those obtained for group of pure organic acids. Our results show that diode array detection helps considerably in tentatively identifying peaks appearing on an abnormal chromatogram while awaiting confirmation by mass spectrometry.

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34

Gradinger, Abigail B., Caroline Bélair, Lisa C. Worgan, Carter D. Li, Jocelyne Lavallée, David Roquis, David Watkins, and David S. Rosenblatt. "Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)." Human Mutation 28, no. 10 (2007): 1045. http://dx.doi.org/10.1002/humu.9507.

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35

Dionisi-Vici, Carlo, Federica Deodato, Wulf Röschinger, William Rhead, and Bridget Wilcken. "‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry." Journal of Inherited Metabolic Disease 29, no. 2-3 (April 2006): 383–89. http://dx.doi.org/10.1007/s10545-006-0278-z.

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36

Puri, Vinod, Neera Chaudhry, Seema Kapoor, Aditya Murgai, and Aviraj Deshmukh. "Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria." Journal of Pediatric Neurosciences 10, no. 2 (2015): 140. http://dx.doi.org/10.4103/1817-1745.159203.

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37

Bodamer, O. A. F., D. S. Rosenblatt, S. H. Appel, and A. L. Beaudet. "Adult-onset combined methylmalonic aciduria and homocystinuria (cblC)." Neurology 56, no. 8 (April 24, 2001): 1113. http://dx.doi.org/10.1212/wnl.56.8.1113.

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38

Hu, Ruimei, Nicole E. Buck, Mahmoud S. Khaniani, Leonie Wood, Hady Wardan, Jean-Francois Benoist, Lingli Li, et al. "Gene induction for the treatment of methylmalonic aciduria." Journal of Gene Medicine 11, no. 4 (April 2009): 361–69. http://dx.doi.org/10.1002/jgm.1297.

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39

Cerone, Roberto, Maria Christina Schiaffino, Ubaldo Caruso, and Rosanna Gatti. "Facial anomalies in combined methylmalonic aciduria and homocystinuria." American Journal of Medical Genetics 95, no. 1 (2000): 87. http://dx.doi.org/10.1002/1096-8628(20001106)95:1<87::aid-ajmg20>3.0.co;2-q.

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40

Bodamer, Olaf A., Trilochan Sahoo, Arthur L. Beaudet, William E. O'Brien, Teodoro Bottiglieri, Sylvia Stöckler-Ipsiroglu, Conrad Wagner, and Fernando Scaglia. "Creatine metabolism in combined methylmalonic aciduria and homocystinuria." Annals of Neurology 57, no. 4 (March 22, 2005): 557–60. http://dx.doi.org/10.1002/ana.20419.

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41

Forny, Patrick, Michel Hochuli, Yusof Rahman, Maesha Deheragoda, Achim Weber, Julien Baruteau, and Stephanie Grunewald. "Liver neoplasms in methylmalonic aciduria: An emerging complication." Journal of Inherited Metabolic Disease 42, no. 5 (July 17, 2019): 793–802. http://dx.doi.org/10.1002/jimd.12143.

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42

Charpentier, C., M. Coude, J.-L. Perignon, A. Lombes, J.-M. Saudubray, and P. Divry. "A new case of methylmalonic aciduria with unexplained negative urinary methylmalonic colorimetric test." Journal of Inherited Metabolic Disease 9, no. 4 (December 1986): 408–9. http://dx.doi.org/10.1007/bf01800500.

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43

Lee, Eun Hye, Jung Min Ko, Jae-Min Kim, and Han-Wook Yoo. "Genotype and clinical features of Korean patients with methylmalonic aciduria and propionic aciduria." Korean Journal of Pediatrics 51, no. 9 (2008): 964. http://dx.doi.org/10.3345/kjp.2008.51.9.964.

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44

Blecker, U., Y. Vandenplas, L. De Meirleir, L. De Raeve, and J. Ramet. "Acrodermatitis-Like Syndrome in Organic Aciduria." Pediatrics 93, no. 3 (March 1, 1994): 537. http://dx.doi.org/10.1542/peds.93.3.537.

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Анотація:

Methylmalonic aciduria (MMA) is an autosomal recessive in-born error of metabolism with a variation in the severity of the clinical manifestations, ranging from asymptomatic patients to fulminating neonatal forms causing severe ketosis, acidosis, hyperammonemia, pancytopenia, coma, and death. Severe cases can be treated with high doses of vitamin B12 and a diet low in proteins. We describe an exceptional manifestation of MMA. A 14-month-old boy with a neonatal manifestation of MMA was admitted during an intercurrent infection with ketoacidosis and hypoglycemia.

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45

Sörensen, Lene, Ulrika von Döbeln, Henrik Åhlman, Annika Ohlsson, Martin Engvall, Karin Naess, Carolina Backman-Johansson, Yvonne Nordqvist, Anna Wedell, and Rolf H. Zetterström. "Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data." International Journal of Neonatal Screening 6, no. 2 (May 27, 2020): 42. http://dx.doi.org/10.3390/ijns6020042.

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Анотація:

Sweden has one neonatal screening laboratory, receiving 115 to 120 thousand samples per year. Among the one million babies screened by tandem mass spectrometry from November 2010 until July 2019, a total of 665 babies were recalled and 311 verified as having one of the diseases screened for with this methodology, giving a positive predictive value (PPV) of 47% and an incidence of 1:3200. The PPV was high (41%) already in the first year after start of screening, thanks to the availability of the collaborative project Region 4 Stork database. The PPV is presently 58%. This improvement was achieved by the implementation of second-tier analyses in the screening for methylmalonic aciduria, propionic aciduria, isovaleric aciduria, and homocystinuria, and the employment of various post analytical tools of the Region 4 Stork, and its successor the collaborative laboratory integrated reports.

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46

Fadilah, Ala, Rebecca Musson, and Santosh R. Mordekar. "Acquired Vitamin B12 Deficiency in Infancy." Journal of Pediatric Neurology 17, no. 06 (October 2, 2018): 213–18. http://dx.doi.org/10.1055/s-0038-1670692.

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Анотація:

AbstractVitamin B12 deficiency can be acquired in infants secondary to exclusive breastfeeding in deficient mothers. In this series of seven infants with acquired vitamin B12 deficiency, clinical features included developmental impairment/regression, faltering growth, feeding difficulties, somnolence, irritability, microcephaly, seizures, and abnormalities on brain magnetic resonance imaging. All had methylmalonic aciduria, other investigation findings were low serum cobalamin and hyperhomocysteinemia. Treatment brought about improvement in growth, behavior, and development; however, development remained impaired in some. We recommend early detection by screening in infants with suggestive clinical presentations, using urine methylmalonic acid/plasma homocysteine as screening tools, maternal screening during pregnancy, and long-term neurodevelopmental follow-up.

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47

Nakamura, Motonobu, and Yoshiki Tokura. "Methylmalonic aciduria presenting with recurrent multiple molluscum contagiosum lesions." Dermato-Endocrinology 2, no. 2 (April 2010): 60–61. http://dx.doi.org/10.4161/derm.2.2.13503.

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48

Celik, Muhittin, Emrah Can, Fatih Bolat, Sinan Uslu, Nihat Sever, and Hasan Onal. "Coincidence of methylmalonic Aciduria and Prepyloric Web: Case Report." Tuberculin Skin Test in Children 11, no. 3 (March 13, 2013): 133–37. http://dx.doi.org/10.5222/j.child.2011.133.

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49

Bibi, H., Z. Gelman-Kohan, E. R. Baumgartner, and D. S. Rosenblatt. "Transcobalamin II deficiency with methylmalonic aciduria in three sisters." Journal of Inherited Metabolic Disease 22, no. 7 (October 1999): 765–72. http://dx.doi.org/10.1023/a:1005507204491.

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50

Ninan, T. K., H. Thom, and G. Russell. "Oral vitamin B12 treatment of cobalamin-responsive methylmalonic aciduria." Journal of Inherited Metabolic Disease 15, no. 6 (November 1992): 939–40. http://dx.doi.org/10.1007/bf01800240.

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