Issue Special Issue 2/2008
Online Reports 2008
Content (47 Articles)
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients
D. Concolino, G. Muzzi, M. Rapsomaniki, M. T. Moricca, M. G. Pascale, P. Strisciuglio
Glycogen storage disease type I in Tunisia: An epidemiological analysis
A. Ben Chehida, N. Tebib, W. Cherif, H. Ben Turkia, S. Abdelmoula, H. Azzouz, M. F. Ben Dridi
A Brazilian galactosialidosis patient given renal transplantation: A case report
A. Kiss, P. R. G. Zen, V. Bittencourt, G. A. Paskulin, R. Giugliani, A. d’Azzo, I. V. Schwartz
Sensory-motor polyneuropathy occurring in variant maple syrup urine disease
S. Harty, M. D. King, B. McCoy, D. Costigan, E. P. Treacy
Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria?
H. Gokmen Ozel, T. Kucukkasap, G. Koksal, H. S. Kalkanoglu Sivri, A. Dursun, A. Tokatli, T. Coskun
N-Carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia
S. Jones, C. A. B. Reed, S. Vijay, J. H. Walter, A. A. M. Morris
Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment
J.-U. Schlump, C. Perot, K. Ketteler, M. Schiff, E. Mayatepek, U. Wendel, U. Spiekerkoetter
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders?
D. Melis, F. Balivo, R. Della Casa, A. Romano, R. Taurisano, B. Capaldo, G. Riccardi, M. R. Monsurrò, G. Parenti, G. Andria
Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: Diagnosis in an expanded neonatal screening programme
M. L. Couce, M. D. Bóveda, D. E. Castiñeiras, F. J. Corrales, M. I. Mora, J. M. Fraga, S. H. Mudd
Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy
Germaine Pierre, Kenneth Setchell, Jacqueline Blyth, Mary Anne Preece, Anupam Chakrapani, Patrick Mckiernan
Effect of single-nucleotide polymorphisms of the 5′ untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians
J. P. Oliveira, S. Ferreira, J. Barceló, P. Gaspar, F. Carvalho, M. C. Sá Miranda, J.-E. Månsson
Multisystem involvement in a patient due to accumulation of amylopectin-like material with diminished branching enzyme activity
T. F. Eminoglu, L. Tumer, I. Okur, R. Olgunturk, A. Hasanoglu, I. I. Gonul, B. Dalgic
Molecular diagnosis of German patients with late-onset glycogen storage disease type II
P. R. Joshi, D. Gläser, S. Schmidt, M. Vorgerd, M. Winterholler, K. Eger, S. Zierz, M. Deschauer
Functional antibody deficiency in a patient with type I Gaucher disease
S. P. Jariwala, J. Fodeman, G. Hudes, K. Ahuja, D. Rosenstreich
Detection of treatable neonatal liver disease by expanded newborn screening
R. J. Mackay, D. Bratkovic, R. Couper, G. P. Davidson, R. Fahy, J. M. Fletcher, E. Ranieri
L-2-Hydroxyglutaric aciduria: Identification of ten novel mutations in the L2HGDH gene
J. O. Sass, F. Jobard, M. Topçu, A. Mahfoud, E. Werlé, S. Cure, N. Al-Sannaa, S. A. Alshahwan, M. Bataillard, L. Cimbalistiene, C. Grolik, V. Kemmerich, H. Omran, L. Sztriha, M. Tabache, J. Fischer
Maple syrup urine disease (MSUD)—Clinical profile of 47 Filipino patients
J. Y. Lee, M. A. Chiong, S. C. Estrada, E. M. Cutiongco-De la Paz, C. L. T. Silao, C. D. Padilla
Transcobalamin (TC) deficiency—Potential cause of bone marrow failure in childhood
C. Prasad, D. S. Rosenblatt, K. Corley, A. E. L. Cairney, C. A. Rupar
Wolcott–Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome
O. Søvik, P. R. Njølstad, E. Jellum, A. Molven
Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: A cautionary note
M. C. de Vries, R. J. Rodenburg, E. Morava, M. Lammens, L. P. W. van den Heuvel, G. Christoph Korenke, J. A. M. Smeitink
Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome
S. Keeratichamroen, J. R. Ketudat Cairns, D. Wattanasirichaigoon, P. Wasant, L. Ngiwsara, P. Suwannarat, S. Pangkanon, J. Kuptanon, P. Tanpaiboon, T. Rujirawat, S. Liammongkolkul, J. Svasti
Phenotypic spectrum of fucosidosis in Tunisia
H. Ben Turkia, N. Tebib, H. Azzouz, M. S. Abdelmoula, J. Bouguila, H. Sanhaji, N. Miladi, I. Maire, C. Caillaud, N. Kaabachi, M. F. Ben Dridi
Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene
H. U. Shirwalkar, Z. M. Patel, J. Magre, P. Hilbert, L. Van Maldergem, R. R. Mukhopadhyay, A. Maitra
Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency
S. Scholl-Bürgi, S. Baumgartner Sigl, J. Häberle, E. Haberlandt, K. Rostásy, C. Ertl, U. Eichinger-Öttl, P. Heinz-Erian, D. Karall
d-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect
A. Jurecka, A. Tylki-Szymanska, M. Zikanova, J. Krijt, S. Kmoch
Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia
J. Velázquez-Aragón, M. A. Alcántara-Ortigoza, M. Vela-Amieva, S. Monroy, V. Martínez-Cruz, C. Todd-Quiñones, A. González-del Angel
Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria
F. Porta, I. Roato, A. Mussa, M. Repici, E. Gorassini, M. Spada, R. Ferracini
Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate
K. Mutoh, K. Kurokawa, K. Kobayashi, T. Saheki
Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease
I. Rohard, E. Schaefer, C. Kampmann, M. Beck, A. Gal
Treatment of a child diagnosed with Niemann–Pick disease type C with miglustat: A case report in Brazil
M. L. F. Santos, S. Raskin, D. S. Telles, A. Löhr Junior, P. B. N. Liberalesso, S. C. Vieira, M. L. Cordeiro
Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family
X. Schneider-Yin, R. Mamet, E. I. Minder, N. Schoenfeld
Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage
R. Y. Wang, J. T. Abe, A. H. Cohen, W. R. Wilcox
l-2-Hydroxyglutaric aciduria: Clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability
A. Larnaout, R. Amouri, M. Kefi, F. Hentati
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient
A. Rimella-Le-Huu, H. Henry, I. Kern, S. Hanquinet, E. Roulet-Perez, C. J. Newman, A. Superti-Furga, L. Bonafé, D. Ballhausen
Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX
M. G. M. de Sain-van der Velden, A. Verrips, B. H. C. M. T. Prinsen, M. de Barse, R. Berger, G. Visser
Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests
G. la Marca, S. Malvagia, B. Casetta, E. Pasquini, M. A. Donati, E. Zammarchi
The g.1170C>T polymorphism of the 5′ untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression—Evidence from a family study
J. P. Oliveira, S. Ferreira, C. Reguenga, F. Carvalho, J.-E. Månsson
Quality of life in noncompliant adults with phenylketonuria after resumption of the diet
M. Bik-Multanowski, B. Didycz, R. Mozrzymas, M. Nowacka, L. Kaluzny, W. Cichy, B. Schneiberg, J. Amilkiewicz, A. Bilar, M. Gizewska, A. Lange, E. Starostecka, A. Chrobot, B. I. Wojcicka-Bartlomiejczyk, A. Milanowski
Costeff optic atrophy syndrome: New clinical case and novel molecular findings
G. Ho, J. H. Walter, J. Christodoulou
Three-generational alkaptonuria in a non-consanguineous family
K. Oexle, K. Engel, S. Tinschert, D. Haas, M. A. Lee-Kirsch
Early administration of enzyme replacement therapy for Pompe disease: Short-term follow-up results
M. A. Hamdan, M. H. Almalik, H. M. Mirghani
Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx
P. L. Calvo, S. Pagliardini, M. Baldi, A. Pucci, L. Sturiale, D. Garozzo, T. Vinciguerra, C. Barbera, J. Jaeken
International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes
I. Khneisser, S. M. Adib, A. Megarbane, Z. Lukacs
Hypoxanthine-guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations
A. Jurecka, E. Popowska, A. Tylki-Szymanska, J. Kubalska, E. Ciara, Z. Krumina, J. Sykut-Cegielska, E. Pronicka
Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia
R. Bonilla Guerrero, L. A. Wolfe, N. Payne, S. Tortorelli, D. Matern, P. Rinaldo, D. Gavrilov, M. Melan, M. He, S. J. Steinberg, G. V. Raymond, J. Vockley, K. M. Gibson
Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination
S. Quental, E. Martins, L. Vilarinho, A. Amorim, M. João Prata
A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family
S. L. Anderson, W. K. Chung, J. Frezzo, J. C. Papp, J. Ekstein, S. DiMauro, B. Y. Rubin