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1
Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation
Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation
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Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation

Rasmussen, J. ; Thomsen, J. A. ; Olesen, J. H. ; Lund, T. M. ; Mohr, M. ; Clementsen, J. ; Nielsen, O. W. ; Lund, A. M.

JIMD Reports, Volume 20, 2015-01, Vol.20, p.103-111 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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2
Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype
Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype
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Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype

Lee, Dong-Hwan ; Qiu, Wen-Juan ; Lee, Jeongho ; Chien, Yin-Hsiu ; Hwu, Wuh-Liang

JIMD Reports, Volume 17, 2014, Vol.17, p.71-75 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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3
Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor
Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor
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Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor

Brodszki, Nicholas ; Svensson, Maria ; van Kuilenburg, André B. P. ; Meijer, Judith ; Zoetekouw, Lida ; Truedsson, Lennart ; Toporski, Jacek

JIMD Reports, Volume 24, 2015-01, Vol.24, p.83-89 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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4
Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy
Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy
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Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy

Levtova, Alina ; Camuzeaux, Stephane ; Laberge, Anne-Marie ; Allard, Pierre ; Brunel-Guitton, Catherine ; Diadori, Paola ; Rossignol, Elsa ; Hyland, Keith ; Clayton, Peter T. ; Mills, Philippa B. ; Mitchell, Grant A.

JIMD Reports, Volume 22, 2015, Vol.22, p.67-75 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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5
Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome
Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome
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Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome

Atwal, P. S.

JIMD Reports, Volume 14, 2014-01, Vol.14, p.43-45 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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6
Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan
Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan
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Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan

Chien, Yin-Hsiu ; Lee, Ni-Chung ; Chao, Mei-Chyn ; Chen, Li-Chu ; Chen, Li-Hsin ; Chien, Chun-Ching ; Ho, Hui-Chen ; Suen, Jeng-Hung ; Hwu, Wuh-Liang

JIMD Reports - Volume 11, 2013-01, Vol.11, p.165-172 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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7
Analysis of Methylcitrate in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry
Analysis of Methylcitrate in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry
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Analysis of Methylcitrate in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry

Al-Dirbashi, Osama Y. ; McIntosh, Nathan ; McRoberts, Christine ; Fisher, Larry ; Rashed, Mohamed S. ; Makhseed, Nawal ; Geraghty, Michael T. ; Santa, Tomofumi ; Chakraborty, Pranesh

JIMD Reports Volume 16, 2014-01, Vol.16, p.65-73 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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8
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
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Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

Haglind, C. Bieneck ; Stenlid, M. Halldin ; Ask, S. ; Alm, J. ; Nemeth, A. ; Döbeln, Uv ; Nordenström, A.

JIMD Reports - Case and Research Reports, 2012/5, 2013-01, Vol.8, p.81-90 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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9
A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency
A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency
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A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency

Akiyama, Tomoyuki ; Osaka, Hitoshi ; Shimbo, Hiroko ; Nakajiri, Tomoshi ; Kobayashi, Katsuhiro ; Oka, Makio ; Endoh, Fumika ; Yoshinaga, Harumi

JIMD Reports - Volume 12, 2014-01, Vol.12, p.65-69 [Periódico revisado por pares]

Cham: Springer International Publishing

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10
Fructose-1,6-Bisphosphatase Deficiency: A Case of a Successful Pregnancy by Closely Monitoring Metabolic Control
Fructose-1,6-Bisphosphatase Deficiency: A Case of a Successful Pregnancy by Closely Monitoring Metabolic Control
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Fructose-1,6-Bisphosphatase Deficiency: A Case of a Successful Pregnancy by Closely Monitoring Metabolic Control

Sugita, Genki ; Tsuyoshi, Hideaki ; Nishijima, Koji ; Yoshida, Yoshio

JIMD Reports, Volume 14, 2014-01, Vol.14, p.115-118 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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