Issue Special Issue 1/2009
Online Reports 2009
Content (61 Articles)
Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status
B. Kohlschütter, M. Ellerbrok, M. Merkel, M. Tchirikov, J. Zschocke, R. Santer, K. Ullrich
Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up
K. Kusmierska, E. E. W. Jansen, C. Jakobs, K. Szymanska, E. Malunowicz, D. Meilei, B. Thony, N. Blau, J. Tryfon, D. Rokicki, E. Pronicka, J. Sykut-Cegielska
Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease
S. Decarlis, C. Agostoni, F. Ferrante, S. Scarlino, E. Riva, M. Giovannini
Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency
K. Komlósi, L. Magyari, G. C. Talián, É. Nemes, R. Káposzta, G. Mogyorósy, K. Méhes, B. Melegh
Peripheral neuropathy in a patient with d-2-hydroxyglutaric aciduria
G. Haliloglu, C. M. Temucin, K. K. Oguz, A. Celiker, T. Coskun, J. O. Sass, J. Fischer, M. Topcu
Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia
R. H. J. Bandsma, G. P. A. Smit, D.-J. Reijngoud, F. Kuipers
Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease
R. Tammachote, S. Tongkobpetch, T. Desudchit, K. Suphapeetiporn, V. Shotelersuk
Extracorporeal membrane oxygenation in a patient with propionic acidaemia: a therapeutic option for cardiac failure
K. Mizuguchi, H. Hoshino, T. Nagasawa, M. Kubota
Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation
M. K. Thong, M. Fietz, C. Nicholls, M. H. Lee, O. Asma
Fabry disease in a patient with Turner syndrome
R. Brouns, F. Eyskens, K. De Boeck, C. Ceuterick-de Groote, M. Van den Broeck, C. Van Broeckhoven, P. P. De Deyn
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult
S. Reimão, C. Morgado, I. T. Almeida, M. Silva, H. Corte Real, J. Campos
Postmortem studies on a patient with mucopolysaccharidosis type I: Histopathological findings after one year of enzyme replacement therapy
S. Yano, K. Moseley, Z. Pavlova
Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands
A. Bonnin, A. Picornell, J. Orfila, J. A. Castro, M. M. Ramon
Leukocyte perturbation associated with Fabry disease
P. Rozenfeld, E. Agriello, N. De Francesco, P. Martinez, C. Fossati
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency
W. L. Nyhan, M. Willis, B. A. Barshop, J. Gangoiti
Maternal tetrahydrobiopterin deficiency: The course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency
M. Giżewska, G. Hnatyszyn, L. Sagan, L. Cyryłowski, C. Żekanowski, M. Modrzejewska, B. Nestorowicz, J. Kubalska, M. Walczak
Creatine transporter deficiency in two adult patients with static encephalopathy
A. Sempere, C. Fons, A. Arias, P. Rodríguez-Pombo, R. Colomer, B. Merinero, P. Alcaide, A. Capdevila, A. Ribes, R. Artuch, J. Campistol
Unusual presentation of propionic acidaemia as isolated cardiomyopathy
T. M. Lee, L. J. Addonizio, B. A. Barshop, W. K. Chung
Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet
A. I. Dagli, R. T. Zori, H. McCune, T. Ivsic, M. K. Maisenbacher, D. A. Weinstein
Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis
L.-R. Sharpe, P. Ancliff, P. Amrolia, K. C. Gilmour, A. Vellodi
Four successful pregnancies in a patient with mucopolysaccharidosis type I treated by allogeneic bone marrow transplantation
G. Remérand, E. Merlin, R. Froissart, F. Brugnon, J. Kanold, L. Janny, F. Deméocq
Danon disease: Case report and detection of new mutation
G. Regelsberger, R. Höftberger, W. F. Pickl, G. J. Zlabinger, U. Körmöczi, U. Salzer-Muhar, D. Luckner, O. A. Bodamer, J. A. Mayr, W. H. Muss, H. Budka, H. Bernheimer
A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene
R. Bachmann-Gagescu, J. Lawrence Merritt II, S. H. Hahn
Changes in gait pattern as assessed by the GAITRite™ walkway system in MPS II patients undergoing enzyme replacement therapy
M. Wood, M. A. Cleary, L. Alderson, A. Vellodi
Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In)
P. T. Clayton, S. Grunewald
Galactosaemia in a Brazilian population: High incidence and cost–benefit analysis
J. S. Camelo Jr, M. I. Machado Fernandes, L. M. Zanini Maciel, C. A. Scrideli, J. L. Ferreira Santos, A. S. Camargo Jr, C. Souza Passador, P. Carvalho Leite, D. Ruffato Resende, L. Oliveira de Souza, R. Giugliani, S. Moysés Jorge
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK
T. Hutchin, M. A. Preece, C. Hendriksz, A. Chakrapani, V. McClelland, F. Okumura, Y.-Z. Song, M. Iijima, K. Kobayashi, T. Saheki, P. McKiernan, U. Baumann
Chitotriosidase plasma activity in nephropathic cystinosis
A. Xaidara, E. M. Karavitakis, K. Kosma, F. Emma, E. Dimitriou, H. Michelakakis
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene
C. Lamperti, S. Salani, S. Lucchiari, A. Bordoni, M. Ripolone, G. Fagiolari, M. E. Fruguglietti, V. Crugnola, C. Colombo, A. Cappellini, A. Prelle, N. Bresolin, G. P. Comi, M. Moggio
High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota
K. Sarafoglou, K. Bentler, A. Gaviglio, K. Redlinger-Grosse, C. Anderson, M. McCann, B. Bloom, D. Babovic-Vuksanovic, D. Gavrilov, S. A. Berry
Early-onset hyperargininaemia: A severe disorder?
M. Schiff, J.-F. Benoist, M. L. Cardoso, M. Elmaleh-Bergès, P. Forey, J. Santiago, H. Ogier de Baulny
Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias
L. Filippi, E. Gozzini, C. Cavicchi, A. Morrone, P. Fiorini, G. Donzelli, S. Malvagia, G. la Marca
Very long-chain acyl-CoA dehydrogenase deficiency: The effects of accidental fat loading in a patient detected through newborn screening
C. Ficicioglu, C. Hussa
Experience with the treatment of argininosuccinic aciduria during pregnancy
L. Reid, É. Perreault, G. Lafrance, J. T. R. Clarke
Long-term neurodevelopmental effects of early detection and treatment in a 6-year-old patient with argininaemia diagnosed by newborn screening
R. L. Edwards, K. Moseley, Y. Watanabe, L. J. Wong, J. Ottina, S. Yano
Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency
G. Di Rosa, P. Malaspina, P. Blasi, C. Dionisi-Vici, C. Rizzo, G. Tortorella, S. R. Crutchfield, K. M. Gibson
Cognitive, behavioural and adaptive profiles of children with glutaric aciduria type I detected through newborn screening
M. H. Beauchamp, A. Boneh, V. Anderson
Black hip, fracture neck of femur and scoliosis: A case of ochronosis
B. Zacharia, J. Chundarathil, V. Ramakrishnan, R. M. Krishnankutty, R. Veluthedath, K. Puthezhath, I. Varughese
Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C
M. Walterfang, M. Fietz, L. Abel, E. Bowman, R. Mocellin, D. Velakoulis
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency
E. Ostergaard, L. Birk Moller, H. Serap Kalkanoglu-Sivri, A. Dursun, M. Kibaek, T. Thelle, E. Christensen, M. Duno, F. Wibrand
Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency
B. Shanti, M. Silink, K. Bhattacharya, N. J. Howard, K. Carpenter, M. Fietz, P. Clayton, J. Christodoulou
Continuous infusion of enzyme replacement therapy is inferior to weekly infusions in MPS I dogs
M. B. Passage, A. W. Krieger, M. C. Peinovich, T. Lester, S. Q. Le, P. I. Dickson, E. D. Kakkis
A new case of ALG8 deficiency (CDG Ih)
K. Vesela, T. Honzik, H. Hansikova, M. A. Haeuptle, J. Semberova, Z. Stranak, T. Hennet, J. Zeman
IgM monoclonal component associated with type I Gaucher disease resolved after enzyme replacement therapy: A case report
C. Martinez-Redondo, F. J. Ortuño, M. L. Lozano, A. Jerez, M. del Mar Osma, P. Giraldo, V. Vicente
Diagnosis of glutathione synthetase deficiency in newborn screening
E. Simon, M. Vogel, R. Fingerhut, E. Ristoff, E. Mayatepek, U. Spiekerkötter
Secondary disorders of glycosylation in inborn errors of fructose metabolism
E. Quintana, L. Sturiale, R. Montero, F. Andrade, C. Fernandez, M. L. Couce, R. Barone, L. Aldamiz-Echevarria, A. Ribes, R. Artuch, P. Briones
Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency
N. Vatanavicharn, C. Kuptanon, S. Liammongkolkul, T.-T. Liu, K.-J. Hsiao, P. Ratanarak, N. Blau, P. Wasant
Prevalence of classical phenylketonuria in mentally retarded individuals in Iran
N. M. Ghiasvand, A. Aledavood, R. Ghiasvand, F. Seyedin Borojeny, A. R. Aledavood, S. Seyed, W. Miner, G. R. Saeb Taheri
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency
J. Ye, T. Wang, L. S. Han, W. J. Qiu, H. W. Zhang, Y. F. Zhang, X. L. Gao, Y. Wang, X. F. Gu
Insidious peripheral neuropathy occurring under treatment in infantile MTHFR deficiency
A. Chaabene-Masmoudi, F. Mesrati, J. Zittoun, P. Landrieu
Substrate deprivation therapy in juvenile Sandhoff disease
S. B. Wortmann, D. J. Lefeber, G. Dekomien, M. A. A. P. Willemsen, R. A. Wevers, E. Morava
Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review
E. J. Footitt, A. Karimova, M. Burch, T. Yayeh, T. Dupré, S. Vuillaumier-Barrot, I. Chantret, S. E. H. Moore, N. Seta, S. Grunewald
Scheie syndrome: Enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression
S. Illsinger, T. Lücke, H. Hartmann, E. Mengel, W. Müller-Forell, F. Donnerstag, A. M. Das
Cognitive and social profiles in two patients with cobalamin C disease
M. H. Beauchamp, V. Anderson, A. Boneh
RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation
J. Jaeken, W. Vleugels, L. Régal, C. Corchia, N. Goemans, M. A. Haeuptle, F. Foulquier, T. Hennet, G. Matthijs, C. Dionisi-Vici
PDH E1β deficiency with novel mutations in two patients with Leigh syndrome
E. Quintana, J. A. Mayr, M. T. García Silva, A. Font, M. A. Tortoledo, S. Moliner, L. Ozaez, M. Lluch, A. Cabello, J. R. Ricoy, J. Koch, A. Ribes, W. Sperl, P. Briones
Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails
Ali Dursun, Safak Gucer, M. S. Ebberink, Sule Yigit, R. J. A. Wanders, H. R. Waterham
Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15
Irene Ferrer-Bolufer, Jaime Dalmau, Ramiro Quiroga, Silvestre Oltra, Carmen Orellana, Sandra Monfort, Mónica Roselló, Alberto De La Osa, Francisco Martinez
False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency
Julia B. Hennermann, Sylvia Roloff, Jutta Gellermann, Annette Grüters, Jeannette Klein