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	121.	Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor. [electronic resource] by Al-Shamsi, Aisha Baker, Alastair Dhawan, Anil Hertecant, Jozef Publication details: JIMD reports 2016 In: JIMD reports vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	122.	N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. [electronic resource] by Rodan, Lance H Berry, Gerard T Publication details: JIMD reports 2017 In: JIMD reports vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	123.	Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I. [electronic resource] by Troko, J Poonawala, Y Geberhiwot, T Martin, B Publication details: JIMD reports 2016 In: JIMD reports vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	124.	ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis. [electronic resource] by Ganetzky, Rebecca D Bloom, Kaitlyn Ahrens-Nicklas, Rebecca Edmondson, Andrew Deardorff, Matthew A Bennett, Michael J Ficicioglu, Can Publication details: JIMD reports 2016 In: JIMD reports vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	125.	The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients. [electronic resource] by Ivleva, Alexandra Weith, Ekaterina Mehta, Atul Hughes, Derralynn A Publication details: JIMD reports 2018 In: JIMD reports vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	126.	Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period. [electronic resource] by Miyazaki, Teruo Nagasaka, Hironori Komatsu, Haruki Inui, Ayano Morioka, Ichiro Tsukahara, Hirokazu Kaji, Shunsaku Hirayama, Satoshi Miida, Takashi Kondou, Hiroki Ihara, Kenji Yagi, Mariko Kizaki, Zenro Bessho, Kazuhiko Kodama, Takahiro Iijima, Kazumoto Yorifuji, Tohru Matsuzaki, Yasushi Honda, Akira Publication details: JIMD reports 2019 In: JIMD reports vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	127.	A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients. [electronic resource] by Musa, Sara Eyaid, Wafaa Kamer, Kimberli Ali, Rehab Al-Mureikhi, Mariam Shahbeck, Noora Al Mesaifri, Fatma Makhseed, Nawal Mohamed, Zakkiriah AlShehhi, Wafaa Ali Mootha, Vamsi K Juusola, Jane Ben-Omran, Tawfeg Publication details: JIMD reports 2019 In: JIMD reports vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	128.	Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress. [electronic resource] by Ambler, Olivia Medford, Emma Hare, Dougal J Publication details: JIMD reports 2018 In: JIMD reports vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	129.	A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy. [electronic resource] by Ryder, B Tolomeo, M Nochi, Z Colella, M Barile, M Olsen, R K Inbar-Feigenberg, M Publication details: JIMD reports 2019 In: JIMD reports vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	130.	Long-term outcomes in a 25-year-old female affected with lipin-1 deficiency. [electronic resource] by Stepien, Karolina M Schmidt, Wolfgang M Bittner, Reginald E O'Toole, Orna McNamara, Brian Treacy, Eileen P Publication details: JIMD reports Mar 2019 In: JIMD reports vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	131.	Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother. [electronic resource] by Dubot, Patricia Astudillo, Léonardo Touati, Guy Baruteau, Julien Broué, Pierre Roche, Sandrine Sabourdy, Frédérique Levade, Thierry Publication details: JIMD reports Mar 2019 In: JIMD reports vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	132.	Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency. [electronic resource] by Alijanpour, Morteza Sasai, Hideo Abdelkreem, Elsayed Ago, Yasuhiko Soleimani, Shima Moslemi, Leila Yamaguchi, Seiji Rezapour, Masomeh Hakimi, Mohammad T Matsumoto, Hideki Fukao, Toshiyuki Publication details: JIMD reports Mar 2019 In: JIMD reports vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	133.	Ten-year retrospective review (2003-2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels. [electronic resource] by Clark, Anne Merrigan, Christine Crushell, Ellen Hughes, Joanne Knerr, Ina Monavari, Ardeshir A Treacy, Eileen Coughlan, Aoife Publication details: JIMD reports Mar 2019 In: JIMD reports vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	134.	A novel missense variant in [electronic resource] by Padmakumar, Manisha Jaeken, Jaak Ramaekers, Vincent Lagae, Lieven Greene, Daniel Thys, Chantal Van Geet, Chris BioResource, Nihr Stirrups, Kathleen Downes, Kate Turro, Ernest Freson, Kathleen Publication details: JIMD reports May 2019 In: JIMD reports vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	135.	A novel mutation in [electronic resource] by Del Brío Castillo, Rodrigo Squires, James E McKiernan, Patrick J Publication details: JIMD reports May 2019 In: JIMD reports vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	136.	Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of Ireland. [electronic resource] by Allen, John Power, Bronwyn Abedin, Aida Purcell, Orla Knerr, Ina Monavari, Ahmad Publication details: JIMD reports May 2019 In: JIMD reports vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	137.	Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby. [electronic resource] by Yamada, Kenji Matsubara, Keiichi Matsubara, Yuko Watanabe, Asami Kawakami, Sanae Ochi, Fumihiro Kuwabara, Kozue Mushimoto, Yuichi Kobayashi, Hironori Hasegawa, Yuki Fukuda, Seiji Yamaguchi, Seiji Taketani, Takeshi Publication details: JIMD reports Sep 2019 In: JIMD reports vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	138.	Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. [electronic resource] by Haller, Christine Song, Wenjie Cimms, Tricia Chen, Chao-Yin Whitley, Chester B Wang, Raymond Y Bauer, Mislen Harmatz, Paul Publication details: JIMD reports Sep 2019 In: JIMD reports vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	139.	Sitosterolemia-10 years observation in two sisters. [electronic resource] by Veit, Lara Allegri Machado, Gabriella Bürer, Céline Speer, Oliver Häberle, Johannes Publication details: JIMD reports Jul 2019 In: JIMD reports vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	140.	Functional analysis of [electronic resource] by Canson, Daffodil M Silao, Catherine Lynn T Caoili, Salvador Eugenio C Publication details: JIMD reports Jul 2019 In: JIMD reports vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 836 results.