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JIMD Reports|February 23, 2013
Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH(4))A G Thiele, J F Weigel, B Ziesch, et al.JIMD Reports|February 23, 2013
Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa PatientsRiffat Aslam, Annelotte C M van Bommel, Christian J Hendriksz, et al.JIMD Reports|February 23, 2013
Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic ProcessE J Langereis, I E T van den Berg, D J J Halley, et al.JIMD Reports|February 23, 2013
CRIM-Negative Pompe Disease Patients with Satisfactory Clinical Outcomes on Enzyme Replacement TherapyHamoud H Al Khallaf, Jennifer Propst, Serge Geffrard, et al.JIMD Reports|February 23, 2013
Accuracy of six anthropometric skinfold formulas versus air displacement plethysmography for estimating percent body fat in female adolescents with phenylketonuriaTeresa D Douglas, Mary J Kennedy, Meghan E Quirk, et al.JIMD Reports|February 23, 2013
Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine DeficiencyL de Boer, L A J Kluijtmans, E MoravaJIMD Reports|February 23, 2013
MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow TransplantationArmin Finkenstedt, Melanie Schranz, Sylvia Bösch, et al.JIMD Reports|February 23, 2013
A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 ProteinMasashi Morita, Junpei Kobayashi, Kozue Yamazaki, et al.JIMD Reports|February 23, 2013
First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intoleranceNadia Esseghir, Chiraz Souissi Bouchlaka, Sondess Hadj Fredj, et al.JIMD Reports|February 23, 2013
Foot process effacement with normal urinalysis in classic fabry diseaseTakahiro Kanai, Takanori Yamagata, Takane Ito, et al.Pageof 127