Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation.

abstract：:Cost-containment in healthcare spending has become a central issue in public policy and healthcare reform, especially as the affordable care act adds millions of people to public and private insurance rolls. In this climate, longstanding criticism of pharmaceutical pricing has grown sharper, and many in both policy an...

journal_title：Orphanet journal of rare diseases

authors： Stella P,Gold-von Simson G

更新日期：2014-10-28 00:00:00

abstract：OBJECTIVES/BACKGROUND:Ataxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (A-T, ATM gene), ataxia with oculomotor apraxia type 1 (AOA1, APTX gene) and type 2 (AOA2, SETX gene). Although, a few unique clinical features differentiate each of these forms,...

journal_title：Orphanet journal of rare diseases

authors： Nanetti L,Cavalieri S,Pensato V,Erbetta A,Pareyson D,Panzeri M,Zorzi G,Antozzi C,Moroni I,Gellera C,Brusco A,Mariotti C

更新日期：2013-08-14 00:00:00

abstract：BACKGROUND:The efficacy of thymectomy in patients with non-thymomatous Myasthenia Gravis (MG) is still unclear. Main limitations have been variable outcome definitions, lack of a control group and adjustment for confounding. OBJECTIVE:To study the efficacy of thymectomy in achieving remission or minimal manifestation ...

journal_title：Orphanet journal of rare diseases

authors： Barnett C,Katzberg HD,Keshavjee S,Bril V

更新日期：2014-12-24 00:00:00

abstract：BACKGROUND:Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocular changes, the disorder has been poorly recognized by ophthalmologists. Neurophysiologic tests imply...

journal_title：Orphanet journal of rare diseases

authors： Hopf S,Nowak C,Hennermann JB,Schmidtmann I,Pfeiffer N,Pitz S

更新日期：2020-05-25 00:00:00

abstract：BACKGROUND:Chronic obstructive pulmonary disease (COPD) is influenced by environmental and genetic factors. An important fraction of COPD cases harbor a major genetic determinant, inherited ZZ (Glu342Lys) α1-antitrypsin deficiency (AATD). A study was undertaken to investigate gene expression patterns in end-stage COPD ...

journal_title：Orphanet journal of rare diseases

authors： Koczulla AR,Jonigk D,Wolf T,Herr C,Noeske S,Klepetko W,Vogelmeier C,von Neuhoff N,Rische J,Wrenger S,Golpon H,Voswinckel R,Luisetti M,Ferrarotti I,Welte T,Janciauskiene S

更新日期：2012-05-23 00:00:00

abstract：BACKGROUND:Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N-acetylglutamate (NAG) synthase. Rapid reduction in plasma ammonia is requir...

journal_title：Orphanet journal of rare diseases

authors： Valayannopoulos V,Baruteau J,Delgado MB,Cano A,Couce ML,Del Toro M,Donati MA,Garcia-Cazorla A,Gil-Ortega D,Gomez-de Quero P,Guffon N,Hofstede FC,Kalkan-Ucar S,Coker M,Lama-More R,Martinez-Pardo Casanova M,Molina A,Picha

更新日期：2016-03-31 00:00:00

abstract：BACKGROUND:Disorders of the spine present a common and difficult management concern in patients with skeletal dysplasia. Due to the rarity of these conditions however, the literature, largely consisting of small, single institution case series, is sparse in regard to well-designed studies to support clinical decision m...

journal_title：Orphanet journal of rare diseases

authors： White KK,Bober MB,Cho TJ,Goldberg MJ,Hoover-Fong J,Irving M,Kamps SE,Mackenzie WG,Raggio C,Spencer SA,Bompadre V,Savarirayan R,Skeletal Dysplasia Management Consortium.

更新日期：2020-06-24 00:00:00

abstract：:Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 bir...

journal_title：Orphanet journal of rare diseases

authors： Davit-Spraul A,Gonzales E,Baussan C,Jacquemin E

更新日期：2009-01-08 00:00:00

abstract：BACKGROUND:Hunter syndrome (mucopolysaccharidosis type II (MPS II)) is a rare metabolic disease that can severely compromise health, well-being and life expectancy. Little evidence has been published on the impact of MPS II on health-related quality of life (HRQL). The objective of this study was to describe this impac...

journal_title：Orphanet journal of rare diseases

authors： Raluy-Callado M,Chen WH,Whiteman DA,Fang J,Wiklund I

更新日期：2013-07-10 00:00:00

abstract：BACKGROUND:Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents a...

journal_title：Orphanet journal of rare diseases

authors： Serrano M,de Diego V,Muchart J,Cuadras D,Felipe A,Macaya A,Velázquez R,Poo MP,Fons C,O'Callaghan MM,García-Cazorla A,Boix C,Robles B,Carratalá F,Girós M,Briones P,Gort L,Artuch R,Pérez-Cerdá C,Jaeken J,Pérez B,P

更新日期：2015-10-26 00:00:00

abstract：BACKGROUND:Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson's disease (PD) is the second most common neurodegenerative condition. The classic motor symptoms of PD may be preceded by many non-motor symptoms (NMS), which include hyposm...

journal_title：Orphanet journal of rare diseases

authors： Wilke MVMB,Dornelles AD,Schuh AS,Vairo FP,Basgalupp SP,Siebert M,Nalin T,Piltcher OB,Schwartz IVD

更新日期：2019-05-10 00:00:00

abstract：BACKGROUND:Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed by anamnesis and pat...

journal_title：Orphanet journal of rare diseases

authors： Guillén-Navarro E,Domingo-Jiménez MR,Alcalde-Martín C,Cancho-Candela R,Couce ML,Galán-Gómez E,Alonso-Luengo O

更新日期：2013-06-25 00:00:00

abstract：:The Neuronal Ceroid Lipofuscinoses (NCLs) are a family of autosomal recessive neurodegenerative disorders that annually affect 1:100,000 live births worldwide. This family of diseases results from mutations in one of 14 different genes that share common clinical and pathological etiologies. Clinically, the diseases ar...

journal_title：Orphanet journal of rare diseases

authors： Geraets RD,Koh Sy,Hastings ML,Kielian T,Pearce DA,Weimer JM

更新日期：2016-04-16 00:00:00

abstract：BACKGROUND:Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. MPS is one of a range of rare inherited metabolic disorders (IMDs) that come under category 3 of life-limiting conditions, where there is ...

journal_title：Orphanet journal of rare diseases

authors： Somanadhan S,Larkin PJ

更新日期：2016-10-10 00:00:00

abstract：BACKGROUND:The diagnostic accuracy of histopathological detection of transthyretin amyloid (ATTR) by Congo red staining of abdominal fat samples has been questioned since low sensitivity has been reported, especially for patients with ATTR cardiomyopathy. However, the outcome of surgically obtained fat pad biopsies has...

journal_title：Orphanet journal of rare diseases

authors： Paulsson Rokke H,Sadat Gousheh N,Westermark P,Suhr OB,Anan I,Ihse E,Pilebro B,Wixner J

更新日期：2020-10-08 00:00:00

abstract：BACKGROUND:Marinesco-Sjögren syndrome (MSS) is an autosomal recessive multisystem disorder characterized by the tetralogy of cerebellar ataxia, congenital cataracts, intellectual disability, and progressive muscle weakness due to myopathy. MSS is extremely rare, and its clinical, pathological, and genetic features are ...

journal_title：Orphanet journal of rare diseases

authors： Goto M,Okada M,Komaki H,Sugai K,Sasaki M,Noguchi S,Nonaka I,Nishino I,Hayashi YK

更新日期：2014-04-23 00:00:00

abstract：BACKGROUND:Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by sclerosing leukoencephalopathy and multifocal bone cysts, caused by a loss-of-function mutation of either DAP12 or TREM2. TREM2 and DAP12 constitute a receptor/adaptor signaling complex expressed exclusively on osteoclasts, den...

journal_title：Orphanet journal of rare diseases

authors： Satoh J,Motohashi N,Kino Y,Ishida T,Yagishita S,Jinnai K,Arai N,Nakamagoe K,Tamaoka A,Saito Y,Arima K

更新日期：2014-05-01 00:00:00

abstract：:Brazil is a country of continental dimensions, with many social inequalities. The latter are reflected on its health system, which comprises a large public component called SUS, a small paid health insurance component and a third very small private component, in which patients pay personally for medical services. Seve...

journal_title：Orphanet journal of rare diseases

authors： Giugliani R,Vairo FP,Riegel M,de Souza CF,Schwartz IV,Pena SD

更新日期：2016-06-10 00:00:00

abstract：:An amendment to this paper has been published and can be accessed via the original article. ...

journal_title：Orphanet journal of rare diseases

authors： Opladen T,López-Laso E,Cortès-Saladelafont E,Pearson TS,Sivri HS,Yildiz Y,Assmann B,Kurian MA,Leuzzi V,Heales S,Pope S,Porta F,García-Cazorla A,Honzík T,Pons R,Regal L,Goez H,Artuch R,Hoffmann GF,Horvath G,Thöny B

更新日期：2020-08-05 00:00:00

abstract：BACKGROUND:Orphan drug development faces numerous challenges, including low disease prevalence, patient population heterogeneity, and strong presence of paediatric patient populations. Consequently, clinical trials for orphan drugs are often smaller than those of non-orphan drugs, and they require the development of ef...

journal_title：Orphanet journal of rare diseases

authors： Day S,Jonker AH,Lau LPL,Hilgers RD,Irony I,Larsson K,Roes KC,Stallard N

更新日期：2018-11-06 00:00:00

abstract：BACKGROUND:The clinical course of Cystic Fibrosis (CF) is usually measured using the percent predicted FEV(1) and BMI Z-score referenced against a healthy population, since achieving normality is the ultimate goal of CF care. Referencing against age and sex matched CF peers may provide valuable information for patients...

journal_title：Orphanet journal of rare diseases

authors： Boëlle PY,Viviani L,Busson PF,Olesen HV,Ravilly S,Stern M,Assael BM,Barreto C,Drevinek P,Thomas M,Krivec U,Mei-Zahav M,Vibert JF,Clement A,Mehta A,Corvol H,French CF Modifier Gene Study Investigators.,European CF Regist

更新日期：2012-09-07 00:00:00

abstract：BACKGROUND:Duchenne muscular dystrophy (DMD) manifests in males mainly by skeletal muscle impairment, but also by cardiac dysfunction. The assessment of the early phases of cardiac involvement using echocardiography is often very difficult to perform in these patients. The aim of the study was to use cardiac magnetic r...

journal_title：Orphanet journal of rare diseases

authors： Panovský R,Pešl M,Máchal J,Holeček T,Feitová V,Juříková L,Masárová L,Pešlová E,Opatřil L,Mojica-Pisciotti ML,Kincl V

更新日期：2021-01-30 00:00:00

abstract：BACKGROUND:Severe to profound sensorineural hearing loss (SNHL) requires cochlear implantation (CI) for auditory rehabilitation. Etiologic diagnoses can contribute to candidacy selection and decision-making regarding the timing of successful CI. However, few studies have been performed to address the etiologic spectrum...

journal_title：Orphanet journal of rare diseases

authors： Park JH,Kim NK,Kim AR,Rhee J,Oh SH,Koo JW,Nam JY,Park WY,Choi BY

更新日期：2014-11-06 00:00:00

abstract：OBJECTIVE:High-resolution nerve ultrasound (HRUS) is a painless tool to quickly evaluate peripheral nerve morphology in vivo. This study set out to characterize peripheral nerve involvement in X-linked adrenomyeloneuropathy (AMN) by HRUS. METHODS:Thirteen adults with genetically proven AMN were examined using the Ultr...

journal_title：Orphanet journal of rare diseases

authors： Rattay TW,Just J,Röben B,Hengel H,Schüle R,Synofzik M,Söhn AS,Winter N,Dammeier N,Schöls L,Grimm A

更新日期：2018-11-03 00:00:00

abstract：BACKGROUND:Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked disorder with male lethality. HCCS encodes the holocytochrome c-type synthase involved in mitochondr...

journal_title：Orphanet journal of rare diseases

authors： van Rahden VA,Rau I,Fuchs S,Kosyna FK,de Almeida HL Jr,Fryssira H,Isidor B,Jauch A,Joubert M,Lachmeijer AM,Zweier C,Moog U,Kutsche K

更新日期：2014-04-15 00:00:00

abstract：BACKGROUND:IgG replacement therapy (IgRT) in primary immunodeficiencies (PID) is a lifelong treatment which may be administered intravenously (IVIg) or subcutaneously (SCIg), at hospital or at home. The objective of the VISAGE study was to investigate if route and/or place for IgRT impact patients' satisfaction regardi...

journal_title：Orphanet journal of rare diseases

authors： Bienvenu B,Cozon G,Hoarau C,Pasquet M,Cherin P,Clerson P,Hachulla E,Crave JC,Delain JC,Jaussaud R

更新日期：2016-06-22 00:00:00

abstract：BACKGROUND:Many genetic diseases are due to defects in protein trafficking where the mutant protein is recognized by the quality control systems, retained in the endoplasmic reticulum (ER), and degraded by the proteasome. In many cases, the mutant protein retains function if it can be trafficked to its proper cellular ...

journal_title：Orphanet journal of rare diseases

authors： Sampson HM,Lam H,Chen PC,Zhang D,Mottillo C,Mirza M,Qasim K,Shrier A,Shyng SL,Hanrahan JW,Thomas DY

更新日期：2013-01-14 00:00:00

abstract：BACKGROUND:It is unknown whether the neonatal tetrahydrobiopterin (BH4) loading test is adequate to diagnose long-term BH4 responsiveness in PKU. Therefore we compared the predictive value of the neonatal (test I) versus the 48-h BH4 loading test (test II) and long-term BH4 responsiveness. METHODS:Data on test I (>199...

journal_title：Orphanet journal of rare diseases

authors： Anjema K,Hofstede FC,Bosch AM,Rubio-Gozalbo ME,de Vries MC,Boelen CC,van Rijn M,van Spronsen FJ

更新日期：2016-01-29 00:00:00

abstract：BACKGROUND:Orphan designated medicinal products benefit from regulatory and economic incentives for orphan drug development. Approximately 40% of orphan designations target rare neoplastic disorders, referring to rare cancers. In order to provide more insights in drugs for rare neoplastic disorders that are under devel...

journal_title：Orphanet journal of rare diseases

authors： Pauwels K,Huys I,Casteels M,Larsson K,Voltz C,Penttila K,Morel T,Simoens S

更新日期：2017-02-16 00:00:00

abstract：BACKGROUND:Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y+LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are hete...

journal_title：Orphanet journal of rare diseases

authors： Mauhin W,Habarou F,Gobin S,Servais A,Brassier A,Grisel C,Roda C,Pinto G,Moshous D,Ghalim F,Krug P,Deltour N,Pontoizeau C,Dubois S,Assoun M,Galmiche L,Bonnefont JP,Ottolenghi C,de Blic J,Arnoux JB,de Lonlay P

更新日期：2017-01-05 00:00:00