m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening

by Mori, Mari, Mytinger, John R., Martin, Lisa C., Bartholomew, Dennis, Hickey, Scott

The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case

by Tchan, M. C., Wilcken, B., Christodoulou, J.

Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH4)

by Thiele, A. G., Weigel, J. F., Ziesch, B., Rohde, C., Mütze, U., Ceglarek, U., Thiery, J., Müller, A. S., Kiess, W., Beblo, S.

Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate

by Gavin, M., Wen, G. Y., Messing, J., Adelman, S., Logush, A., Jenkins, E. C., Brown, W. T., Velinov, M.

Pulmonary Manifestations in a Patient with Transaldolase Deficiency

by Jassim, Nada, AlGhaihab, Mohammed, Saleh, Suhail Al, Alfadhel, Majid, Wamelink, Mirjam M. C., Eyaid, Wafaa

Abnormalities in Glycogen Metabolism in a Patient with Alpers’ Syndrome Presenting with Hypoglycemia

by Simon, Mariella, Chang, Richard C., Bali, Deeksha S., Wong, Lee-Jun, Peng, Ying, Abdenur, Jose E.

Cystinosis with Sclerotic Bone Lesions

by Sirrs, S., Munk, P., Mallinson, P. I., Ouellette, H., Horvath, G., Cooper, S., Da Roza, G., Rosenbaum, D., O’Riley, M., Nussbaumer, G., Hoang, L. N., Lee, C. H.

Inheritance of the m.3243A>G mutation

by de Laat, Paul, Koene, Saskia, Heuvel, Lambert P. W. J. vd, Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.

Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I

by Schroeder, L., Orchard, P., Whitley, C. B., Berry, J. M., Tolar, J., Miller, W., Braunlin, E. A.

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation

by Lines, Matthew A., Rupar, C. Anthony, Rip, Jack W., Baskin, Berivan, Ray, Peter N., Hegele, Robert A., Grynspan, David, Michaud, Jean, Geraghty, Michael T.

Fabry Disease in Latin America: Data from the Fabry Registry

by Villalobos, J., Politei, J. M., Martins, A. M., Cabrera, G., Amartino, H., Lemay, R., Ospina, S., Ordoñez, S. Suarez, Varas, C.

Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect

by Parini, R., Furlan, F., Brambilla, A., Codazzi, D., Vedovati, S., Corbetta, C., Fedeli, T., Merinero, B., Pérez, B., Ugarte, M.

Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III

by Doneda, Divair, Vairo, Filippo P., Lopes, André L., Reischak-Oliveira, Álvaro, Schestatsky, Pedro, Bianchin, Marino M., Moulin, Cileide C., Schwartz, Ida V. D.

Low Temperature Deposition of Polycrystalline Lithium Transition Metal Oxide Thin Films for Micro Batteries

by Chiu, Kuo-Feng, Chen, C. C., Chen, P. Y., Ho, W.-H.

Sedimentation and subsidence history of the Lomonosov Ridge

by Moore, T C

Applications of microsystems and signal processing for wiring integrity monitoring

by Blemel, K., Furse, C.

Amorphous Materials: Frequency-dependent Ionic Conductivity

by Funke, K., Cramer, C.

Mechanical Optimization in Nature, Principles of

by Mattheck, C., Bethge, K.

Understanding the impacts of climate change for fisheries and aquaculture: applying a poverty lens

by Kalikoski, D C, Jentoft, S, Charles, A, Herrera, D S, Cook, K, Bene, C, Allison, E H

Deepwater drilling in the Arctic Ocean's permanent sea ice

by Moran, K, Backman, J, Farrell, J W